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Gene: Gfap MGI:95697

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glial fibrillary acidic protein

Synonyms:

N/A

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 Gfap 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 Gfap (3 diseases)
Human diseases predicted to be associated with Gfap (591 diseases)

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

Disease	Matching phenotypes	Source
Alexander Disease	Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased CSF protein concentr...	OMIM:203450
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Rosenthal ...	ORPHA:363717
Alexander Disease Type Ii	Abnormal periventricular white matter morphology, Periventricular cysts	ORPHA:363722

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

Disease	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 14	Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Generalized tonic seizure	OMIM:614959
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features...	OMIM:615400
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Developmental And Epileptic Encephalopathy 71	Seizure, Gliosis	OMIM:618328
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Immunodeficiency 83, Susceptibility To Viral Infections	Seizure, Gliosis	OMIM:613002
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
L-2-Hydroxyglutaric Aciduria	L-2-hydroxyglutaric acidemia, Seizure, Gliosis	OMIM:236792
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Status epilepticus, Myoclonus...	ORPHA:99802
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Gliosis, Myoclonus	OMIM:604218
Huntington Disease	Seizure, Gliosis	OMIM:143100
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Pontocerebellar Hypoplasia, Type 4	Seizure, Gliosis, Myoclonus	OMIM:225753
Autosomal Recessive Spastic Paraplegia Type 71	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:401840
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Abnormal myelination, Agenesis of corp...	ORPHA:85179
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology, Abnormal c...	ORPHA:217260
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr...	ORPHA:2703
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Pelizaeus-Merzbacher Disease	Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy,...	OMIM:312080
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoe...	OMIM:620317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph...	OMIM:618709
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Abnormal myelination	ORPHA:401830
Primary Non-Essential Cutis Verticis Gyrata	Seizure, Gliosis	ORPHA:357225
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Abnormal myelination	ORPHA:401820
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Elevated circulating creatine kinase concentration, Myoclonic seiz...	ORPHA:168486
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia	ORPHA:2119
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis	OMIM:300857
Pontocerebellar Hypoplasia, Type 15	Delayed CNS myelination, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral...	OMIM:619302
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Abno...	ORPHA:352682
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Pick Disease Of Brain	Gliosis	OMIM:172700
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Delayed ...	ORPHA:168577
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Gliosis	OMIM:615095
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Seizure, Gliosis	OMIM:608033
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Delayed CNS myelination, Cerebral atrophy	OMIM:616084
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Delayed CNS myelination, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, H...	OMIM:615599
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gliosis, Mildly elevated creatine kinase	OMIM:604484
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Seizure, Gliosis	OMIM:221820
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum,...	OMIM:615287
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Delayed myelination	ORPHA:599373
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Gliosis, Myoclonic spas...	OMIM:614498
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Leukoencephalopathy With Vanishing White Matter 1	Seizure, Gliosis	OMIM:603896
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Gliosis, Small for gestational age, Truncal obesity	OMIM:300957
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar gliosis, S...	ORPHA:79243
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Spinocerebellar Ataxia, Autosomal Recessive 2	Gliosis	OMIM:213200
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Myoclonus, Astrocytosis	ORPHA:204
Spinocerebellar Ataxia 17	Seizure, Gliosis, Myoclonus	OMIM:607136
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul...	ORPHA:171680
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Delayed myelination, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the c...	ORPHA:397951
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle	OMIM:220200
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Seizure, Gliosis, Myoclonus, Elevated hepatic iron concentration, Basal gangli...	OMIM:614946
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi...	ORPHA:1528
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Delayed CNS myelination, Cerebral atrophy, Microcephaly	OMIM:300884
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Seizure, Gliosis, Myoclonus	OMIM:221770
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis	OMIM:618369
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis	OMIM:105550
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca...	OMIM:304100
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly, Microcephaly	ORPHA:2462
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Leigh Syndrome	Failure to thrive, Gliosis	OMIM:256000
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen...	OMIM:615191
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Thick corpus callosum, Cerebral cortical atrophy, Ve...	OMIM:617011
Spastic Paraplegia 50, Autosomal Recessive	Seizure, Gliosis	OMIM:612936
Lissencephaly, X-Linked, 2	Seizure, Gliosis	OMIM:300215
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Bilateral tonic-clonic seizure, Gliosis	ORPHA:457240
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Mitral regurgitation, Subcortical cerebral atr...	ORPHA:309282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Hydrocephalus, Simplified gyral pattern, Microcephaly	OMIM:619470
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Gliosis	OMIM:214150
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleioc...	OMIM:610333
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Combined Oxidative Phosphorylation Deficiency 24	Seizure, Gliosis, Status epilepticus, Elevated circulating creatine kinase concentration	OMIM:616239
Huntington Disease-Like 1	Gliosis, Weight loss	ORPHA:157941
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Seizure, Status epilepticus, Myoclonus, Gliosis, Hyperalaninemia, Febrile seizure (within the age...	OMIM:619847
Neurodegeneration With Brain Iron Accumulation 2A	Seizure, Gliosis	OMIM:256600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
2,4-Dienoyl-Coa Reductase Deficiency	Delayed CNS myelination, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Co...	OMIM:616034
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Abnormal ce...	OMIM:613153
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Frontotemporal Dementia With Motor Neuron Disease	Gliosis	ORPHA:275872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Seizure, Gliosis	ORPHA:3240
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Epistaxis, Microcephaly, Mild fetal ventricul...	OMIM:619841
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Gliosis	ORPHA:280210
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Reduced cerebral white matter volume, Hydrocephalus, Secondary microcephaly, Hypoplasia of the co...	OMIM:618174
Pontocerebellar Hypoplasia, Type 2A	Seizure, Gliosis	OMIM:277470
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Corpus callosum atrophy, Diffuse leukoencephalopathy, Gliosis...	OMIM:169500
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Basal ganglia gliosis, Gliosis	OMIM:604377
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, Hypoplasia of th...	OMIM:613155
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Fried Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:85335
Familial Acute Necrotizing Encephalopathy	Seizure, Gliosis	ORPHA:88619
Alexander Disease	Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased CSF protein concentr...	OMIM:203450
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Mitral regurgitation, Megalencephaly	ORPHA:83473
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:580
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618577
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Hypop...	OMIM:616900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati...	OMIM:617193
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, CNS demyelination, Increased CSF protein concentration, ...	OMIM:245200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Hogue-Janssen Syndrome 2	Delayed CNS myelination, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis...	OMIM:616362
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Coach Syndrome 2	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Kleefstra Syndrome Due To A Point Mutation	Failure to thrive, Gliosis, Large for gestational age	ORPHA:261652
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Central Precocious Puberty In Male	Hydrocephalus, Astrocytoma, Optic nerve glioma	ORPHA:649929
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Seizure, Gliosis	OMIM:618222
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:26791
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus ca...	ORPHA:272
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Rosenthal ...	ORPHA:363717
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy	OMIM:616521
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Gliosis, Myoclonus, Infantile spasms	OMIM:618321
Parkinson Disease 1, Autosomal Dominant	Gliosis, Myoclonus	OMIM:168601
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Mitral regurgitation, Hypoplasia of the cor...	OMIM:603387
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Bilateral tonic-clonic seizure, Seizure, Gliosis, Myoclonic spasms	OMIM:252160
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Diffuse white ...	ORPHA:370959
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Hydrocephalus, Aortic val...	OMIM:220220
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:218350
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:1516
Progressive Supranuclear Palsy	Gliosis	ORPHA:683
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Abnormal mye...	ORPHA:289266
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis of corpu...	OMIM:225790
Machado-Joseph Disease	Gliosis	OMIM:109150
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:858
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu...	ORPHA:2524
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus	OMIM:300886
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Typical absence seizure, Seizure, Focal impaired awareness s...	ORPHA:845
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Tachycardia, Secondary microcephaly, Periventricular white matter hyp...	OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Hypertrophic cardiomyopathy	OMIM:620135
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Gliosis	OMIM:231680
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum	OMIM:614833
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Delayed CNS myelination, Demyelinating peripheral neuropathy, Microcephaly, Hydrocephalus, Colpoc...	OMIM:619833
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis	OMIM:607485
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Hereditary Late-Onset Parkinson Disease	Gliosis, Weight loss	ORPHA:411602
Molybdenum Cofactor Deficiency, Complementation Group A	Seizure, Hypouricemia, Gliosis, Myoclonic spasms	OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Agenesis of corpus callosum...	OMIM:615249
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrocephalus, Cerebral atrophy	OMIM:269920
Multiple Sulfatase Deficiency	Hydrocephalus, Cerebral atrophy, CNS demyelination, Abnormal periventricular white matter morphol...	OMIM:272200
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Papillorenal Syndrome	Seizure, Elevated circulating creatinine concentration, Gliosis	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Leukodystrophy, Polymic...	OMIM:616538
Nasu-Hakola Disease	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca...	ORPHA:488627
Leigh Syndrome	Infantile spasms, Seizure, Status epilepticus, Gliosis, Hyperalaninemia	ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy	OMIM:615181
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Delayed myelination, Abnormal cerebral white matter morphology, Hype...	ORPHA:2169
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Glioma, Microcephaly	OMIM:241800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Abnormal cerebral cortex morphology	ORPHA:163961
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Microcephaly	ORPHA:398189
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Extra-axial cerebrospinal flu...	OMIM:619179
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Astrocytosis, Status epilepticus, Myoclonus, Gliosis, Generalized n...	OMIM:203700
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus call...	OMIM:613001
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Decreased LDL cholesterol concentratio...	ORPHA:404454
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
D-Bifunctional Protein Deficiency	Seizure, Bilateral tonic-clonic seizure, Gliosis, Increased circulating very long-chain fatty aci...	OMIM:261515
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Basal ganglia calcification, Hydrocephalus, Dilated cardiomyo...	ORPHA:398124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Increased CSF lactate, Microcephaly	OMIM:604273
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hypoplasia of the pyramidal tract, Pachygyria, Hydrocephalus, Dilated cardiomyopat...	OMIM:253800
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Hypoplasia of the corpus ca...	OMIM:611134
Mannosidosis, Alpha B, Lysosomal	Gliosis	OMIM:248500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seizure, Gliosis, Status epilepticus, Myoclonus	OMIM:301072
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, CNS hypomyelination	OMIM:619423
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination, Thin corpus callosum, Reduced cerebral white matter volume, Microcephaly	OMIM:617333
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c...	OMIM:617281
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,...	ORPHA:899
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Aplasia/Hypoplasia of the c...	ORPHA:1908
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha...	ORPHA:357058
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia, Polymicrogyria, Ventric...	ORPHA:60040
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Lateral ventricle dilatation, Hydrocephalus, De...	OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Retinal telangiectasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:620157
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormal septum pellucidum morphology, Hydrocephalus, Cerebral atrophy	ORPHA:171839
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Microcephaly	OMIM:300558
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
Congenital Disorder Of Deglycosylation 1	Elevated circulating alpha-fetoprotein concentration, Myoclonic seizure, Seizure, Gliosis, Myoclo...	OMIM:615273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpu...	OMIM:614643
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:609757
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Probst bundles, Tricuspid regurgitation, Hydrocephalus, Lateral ven...	OMIM:612863
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Cerebral Visual Impairment	Microcephaly, Hydrocephalus, Intracranial hemorrhage, Abnormal cerebral white matter morphology, ...	ORPHA:447788
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Heart block, Hydrocephalus,...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpu...	OMIM:614924
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Aortic valve stenosis	ORPHA:459061
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination, Abnormal corpus callosum morphology, Cerebral atrophy, Microcephaly	ORPHA:442835
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Hyperintensity of cerebral white matter on MRI, Dandy-Walk...	OMIM:618476
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Hydrocephalus, Abnormal basal ganglia morphology, Cardiomyopathy, Arrhyth...	ORPHA:157
Emanuel Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter m...	ORPHA:96170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Generalized myoclonic seizure, Gliosis, Elevated hepatic iron concentration	OMIM:300868
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Hypoplasia of t...	OMIM:614424
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Telangiectasia	OMIM:612582
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corp...	OMIM:614576
Emanuel Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosu...	OMIM:609029
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S...	ORPHA:97339
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Cavum septum pellucidum, Cerebral cortical atrophy, V...	OMIM:616260
Peroxisome Biogenesis Disorder 12A (Zellweger)	CNS demyelination, Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:614886
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:35107
Pettigrew Syndrome	Ventriculomegaly, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcif...	OMIM:304340
Monosomy 18Q	Astrocytoma, Left-to-right shunt, Microcephaly, Congestive heart failure, Diffuse white matter ab...	ORPHA:1600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Delayed CNS myelination, Hydrocephalus, Cerebral atrophy, Right bundle branch block, Hypoplasia o...	OMIM:618590
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Gliosis, Generalized myoclonic ...	ORPHA:268261
Diets-Jongmans Syndrome	Seizure, Gliosis	OMIM:618846
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Diabetic Embryopathy	Hydrocephalus, Microcephaly, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1926
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Microcephaly	OMIM:613330
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Helsmoortel-Van Der Aa Syndrome	Truncal obesity, Failure to thrive, Gliosis, Obesity	OMIM:615873
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Fanconi Anemia, Complementation Group B	Hydrocephalus, Delayed CNS myelination, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:300514
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyr...	ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Pulmonic stenosis, A...	ORPHA:314679
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Lissencephaly, Secondary microcephaly, Hypertrophic cardiomyopathy, Dandy-Walker m...	OMIM:612938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus call...	OMIM:613150
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Pulmonic stenosis, Dandy-Walker malformation, Aortic valve stenosis	OMIM:220210
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Gliosis	OMIM:617403
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:3376
Temple Syndrome	Hydrocephalus	ORPHA:254516
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Left-to-right shunt, Ventriculomegaly	ORPHA:363444
Cerebrotendinous Xanthomatosis	Seizure, Palatal tremor, Gliosis	ORPHA:909
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the c...	ORPHA:500055
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Gorlin Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:377
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Menin...	OMIM:236670
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Seizure, Gliosis	OMIM:124000
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebral hyp...	OMIM:257300
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hypertrophic cardiomyopathy	OMIM:618810
Bresek Syndrome	Hydrocephalus, Microcephaly	ORPHA:85284
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Portal hypertension, Microcephaly, Abnormal globus p...	ORPHA:309854
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Polymicrogyria, Agenesis of corpus...	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Dandy-Walker malformatio...	OMIM:617822
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Porencephalic cys...	ORPHA:974
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive...	OMIM:614969
Tetrasomy 5P	Pericallosal lipoma, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary arterial hy...	ORPHA:3309
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Delayed myelination, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	ORPHA:457284
Alexander Disease	Cerebral calcification, Sudden cardiac death, Megalencephaly, Aqueductal stenosis, Hydrocephalus,...	ORPHA:58
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Temple Syndrome	Hydrocephalus	OMIM:616222
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Supranuclear Palsy, Progressive, 2	Gliosis	OMIM:609454
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus	ORPHA:3301
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Megalencephaly, Congestive heart failure, Hydrocephalus, Hypoplasia of the corpus callosum, Pulmo...	OMIM:616482
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2836
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e...	OMIM:261740
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Cerebral cortical atrophy, Delayed myelination	OMIM:239300
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Junctional ectopic tachycardia, Hydrocephalus, Colpocepha...	OMIM:309801
Cockayne Syndrome	Seizure, Gliosis, Hyperuricemia	ORPHA:191
Rabin-Pappas Syndrome	Hydrocephalus, Retinal telangiectasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:620155
3C Syndrome	Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation, Ventriculomegaly	ORPHA:7
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum	ORPHA:475
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Severe demyelination of the white matter, Pulmonary embolism, Hydrocephalus, Dilate...	ORPHA:79282
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Lowry-Maclean Syndrome	Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Gabriele-De Vries Syndrome	Small for gestational age, Gliosis	ORPHA:506358
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Agenesis of cor...	OMIM:612651
Trisomy 17P	Hydrocephalus, Aortic valve stenosis, Microcephaly	ORPHA:261290
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2318
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Delayed CNS myelination, Microcephaly, Aqueductal stenosis, Partial agenesis of the corpus callos...	OMIM:619512
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:67045
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricular ...	ORPHA:395
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Seizure, Generalized-onset seizure, Gliosis, Hyperammonemia	OMIM:220111
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp...	ORPHA:3452
15Q Overgrowth Syndrome	Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag...	ORPHA:314585
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Fg Syndrome Type 1	Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the corpu...	ORPHA:93932
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Su...	ORPHA:2356
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Delayed CNS myelination, Spina bifida, Microcephaly, Hydrocephalus	OMIM:613776
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Cerebral calcification, Congestive heart failure, Hydroceph...	ORPHA:505248
Thanatophoric Dysplasia, Type I	Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Congenital Sialidosis Type 2	Abnormal EKG, Hydrocephalus, Telangiectasia	ORPHA:93400
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microcephaly, Megalencephaly, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Rhombencephalosynapsis	Septo-optic dysplasia, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Demyelinating peripheral neuropathy, Basal ganglia calcification, ...	ORPHA:90324
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Hurler Syndrome	Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Abnormal CNS myelination, Mitral regurgitation	OMIM:607014
Arachnoiditis	Hydrocephalus	ORPHA:137817
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Leukodystrophy, Dilated third ventricle	OMIM:619575
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Demyelinating peripheral neuropathy, Microcephaly	ORPHA:220295
Neurooculorenal Syndrome	Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephalus, Polymicrogyria, Agen...	OMIM:620305
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Abnormal corpus callosum morphology	OMIM:608091
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Sturge-Weber Syndrome	Conjunctival telangiectasia, Cerebral calcification, Pulmonary embolism, Hydrocephalus, Cerebral ...	ORPHA:3205
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pulmonic stenosis, Hypertrophic cardiom...	OMIM:115150
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:243605
Marshall-Smith Syndrome	Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, Macrogyria, Premature ventricular cont...	OMIM:602535
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Hypoplasia of the corpus callosum, Occipital meningocele, Polymicrogy...	OMIM:616546
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Portal hypertension, Aplasia/Hypoplasia of the corpus cal...	ORPHA:1454
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Microcephaly	ORPHA:1865
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi...	ORPHA:137667
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Telangiectasia of the skin, Cerebral cortical atrophy	OMIM:616007
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Hypertension	OMIM:616914
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculom...	OMIM:101200
Genitopalatocardiac Syndrome	Hydrocephalus, Microcephaly	ORPHA:2075
Osteopetrosis, Autosomal Recessive 5	Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Cerebral atrophy, Ventriculomegaly	OMIM:259720
Multiple Sulfatase Deficiency	Hydrocephalus, Microcephaly	ORPHA:585
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Microcephaly, Abnormal cerebral white matter morphology, Abnorma...	ORPHA:466768
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Neurofibromatosis, Type I	Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Optic nerve glioma	OMIM:162200
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hydrocephalus	OMIM:309900
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation...	OMIM:253200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Hydrocephalus	ORPHA:1555
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Dextrocardia	Abnormal EKG, Hydrocephalus, T-wave inversion	ORPHA:1666
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Achondroplasia	Hydrocephalus	ORPHA:15
Holoprosencephaly	Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dys...	ORPHA:2162
Mirage Syndrome	Intracranial hemorrhage, Hydrocephalus	OMIM:617053
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Hydrocephalus, Cerebral cortical atrophy, Pulmonic stenosis	ORPHA:1340
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Dandy-Walker m...	OMIM:605627
Coccidioidomycosis	Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm...	ORPHA:228123
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria	ORPHA:65285
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Trisomy 8P	Microcephaly, Hydrocephalus, Heart murmur, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Aymé-Gripp Syndrome	Pericarditis, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventri...	ORPHA:1272
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:2166
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Hurler Syndrome	Cardiomyopathy, Hydrocephalus, Hypertension, Angina pectoris	ORPHA:93473
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,...	OMIM:210710
H Syndrome	Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia	ORPHA:168569
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Hydrocephalus	OMIM:253220
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Zttk Syndrome	Aortic regurgitation, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypo...	OMIM:617140
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure	ORPHA:579
Achondroplasia	Hydrocephalus, Megalencephaly	OMIM:100800
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Hypoplasi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Hypoplasi...	ORPHA:363958
Craniopharyngioma	Hydrocephalus, Cerebral calcification, Cerebral ischemia, Myocardial infarction	ORPHA:54595
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus,...	OMIM:249000
Holoprosencephaly 9	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum,...	OMIM:610829
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, H...	OMIM:270400
Full Nf2-Related Schwannomatosis	Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma	ORPHA:637
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dilated cardiomyo...	ORPHA:2556
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2461
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus	OMIM:300373
Isotretinoin-Like Syndrome	Hydrocephalus, Aortic valve stenosis, Microcephaly	ORPHA:2306
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
7Q11.23 Microduplication Syndrome	Hydrocephalus, Aortic valve stenosis, Simplified gyral pattern, Ventriculomegaly	ORPHA:96121
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Microcephaly, Congestive heart failure, Hydrocephalus, Delayed myelination,...	OMIM:619475
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Dubowitz Syndrome	Hydrocephalus, Microcephaly, Spina bifida occulta, Aplasia/Hypoplasia of the corpus callosum	ORPHA:235
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Microcephaly	OMIM:182212
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis	OMIM:231005
Monosomy 9Q22.3	Ventriculomegaly, Hydrocephalus, Calcification of falx cerebri	ORPHA:77301
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Raine Syndrome	Hydrocephalus, Cerebral calcification, Microcephaly	OMIM:259775
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Transient ischemic attack, Dysplastic corpus callosum, Simplified gyral pattern...	ORPHA:500150
Meckel Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:564
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Hypoplasia of the corpus callosum	ORPHA:401973
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Delayed CNS myelination, Microcephaly, Pachygyria, Hydrocephalus, D...	OMIM:607872
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Hydrocephalus, Heart murmur, Microcephaly	ORPHA:163979
Fanconi Anemia, Complementation Group L	Hydrocephalus, Delayed CNS myelination	OMIM:614083
Mucopolysaccharidosis Type 3	Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly	ORPHA:581
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:147791
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Calcification of falx cerebri	OMIM:109400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin...	OMIM:175780
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Agenesis of cor...	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Agenesis of cor...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Agenesis of cor...	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Agenesis of cor...	ORPHA:93924
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
Yunis-Varon Syndrome	Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Hypoplasia of the frontal...	ORPHA:3472
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Occipital my...	ORPHA:567
Kabuki Syndrome	Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly	ORPHA:2322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pachygy...	OMIM:253280
Degcags Syndrome	Tachycardia, Microcephaly, Pulmonic stenosis, Abnormal myelination, Pulmonary arterial hypertensi...	OMIM:619488
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Microcephaly	OMIM:154400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
Witteveen-Kolk Syndrome	Delayed CNS myelination, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Intracrani...	OMIM:613406
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Hypoplasia of the corpus callosum, Pulmonary art...	ORPHA:2072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypertension, Hydrocephalus	ORPHA:95699
Fanconi Anemia	Spina bifida, Microcephaly, Hydrocephalus, Hypertrophic cardiomyopathy, Ventriculomegaly	ORPHA:84
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Hypoplasia of the corpus callosum, Hypert...	ORPHA:363700
Hajdu-Cheney Syndrome	Hydrocephalus, Mitral stenosis, Aortic valve stenosis	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Left ventricular noncompaction cardiomyopathy, Thick corpus callosum	OMIM:300967
Costello Syndrome	Hydrocephalus, Cerebral atrophy, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Vent...	OMIM:218040
Mend Syndrome	Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Pulmonic stenosis, Mitral stenosis	OMIM:306955
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Tricuspid regurgitation, Microcephaly	ORPHA:261337
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Abnormal cardiac ventricular function, Tricuspid regurgitation, Hypop...	ORPHA:466791
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis of ...	OMIM:305600
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Wiedemann-Rautenstrauch Syndrome	Sudanophilic leukodystrophy, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Pulmonar...	OMIM:612289
Tetrasomy 9P	Pericarditis, Raynaud phenomenon, Hydrocephalus, Lissencephaly, Pulmonary arterial hypertension, ...	ORPHA:3310
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, CNS hypomyelination, Leukodystrophy, Pulmonic stenosis, Polymicrogyria, Agenesis o...	ORPHA:3455
Meningioma	Hydrocephalus, Syncope, Cerebral hemorrhage	ORPHA:2495
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Ventric...	ORPHA:666
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Neurofibromatosis Type 1	Hypertension, Hydrocephalus, Astrocytoma	ORPHA:636
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hydrocephalus	ORPHA:538
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	OMIM:218600
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Myelomeningocele	OMIM:219000
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Peters Plus Syndrome	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pulmonic stenosis, Spina ...	ORPHA:709
Gaucher Disease	Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly	ORPHA:355
Fetal Akinesia Deformation Sequence 1	Cavum septum pellucidum, Hydrocephalus, Absent septum pellucidum	OMIM:208150
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Pulmonic stenosis, Agenesis of corpus callosum, Ve...	OMIM:261540
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hydrocephalus	ORPHA:667
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Arrhythmia, Agenesis of corpus callosum	OMIM:312870
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Microcephaly	OMIM:619321
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus, Microcephaly	OMIM:147920
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:107480
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Microcephaly	OMIM:268300
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Alexander Disease Type Ii	Abnormal periventricular white matter morphology, Periventricular cysts	ORPHA:363722

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 Gfap

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 Gfap.

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

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
Gfap^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Gfap^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gfap^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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