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Gene: Gfap MGI:95697

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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.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Generalized tonic seizure, Gliosis, Focal motor seizure, Status epilepticus OMIM:614959
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Developmental And Epileptic Encephalopathy 71
Gliosis, Seizure OMIM:618328
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure OMIM:613002
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Hippocampal sclerosis, Bilateral tonic-clo... OMIM:615400
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Gliosis, Focal tonic seizure, Atonic seizure, Focal motor se... ORPHA:99802
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Huntington Disease
Gliosis, Seizure OMIM:143100
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Seizure OMIM:604218
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Subdural hemorrhage, Abnormal bas... ORPHA:25
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Seizure OMIM:225753
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hypoplasia of the corpus callosum ORPHA:401840
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal cerebrospinal fluid morphology, CNS demyelination, Abnorm... ORPHA:217260
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph... ORPHA:2703
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the corpus c... ORPHA:85179
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pelizaeus-Merzbacher Disease
CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Microcephaly, Abn... OMIM:312080
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Cortical dysp... OMIM:618709
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Congenital Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Seizure, Abnormal astrocyte morphology, Elevated circulating creatine kinase c... ORPHA:168486
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Seizure ORPHA:357225
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morpholo... ORPHA:352682
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Delayed CNS myelination, Hydrocephalus, Partial agenesis of the corp... OMIM:619302
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Seizure OMIM:608033
Pick Disease Of Brain
Gliosis OMIM:172700
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Intracerebral periventricular calcifications, Microcephaly, Cerebral white mat... ORPHA:168577
Microcephaly 10, Primary, Autosomal Recessive
Small for gestational age, Gliosis OMIM:615095
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Frontal Encephalocele
Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele,... ORPHA:1931
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... OMIM:607341
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosu... OMIM:615599
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Communicating hydrocephalus, Delayed CNS myelination, Cardiomyopathy OMIM:616084
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Seizure OMIM:221820
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gliosis OMIM:604484
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Delayed CNS myelination, Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Delayed myelination ORPHA:599373
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Focal-onset seizure, Gliosis, Myoclonic spasms, Multifocal seizure... OMIM:614498
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Leukoencephalopathy With Vanishing White Matter 1
Gliosis, Seizure OMIM:603896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Absent septum pellucidum, Agene... OMIM:615287
L-2-Hydroxyglutaric Aciduria
Gliosis, Seizure, L-2-hydroxyglutaric acidemia OMIM:236792
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Gliosis, Truncal obesity, Increased body mass index OMIM:300957
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis OMIM:213200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Infantile spasms, Gliosis, Bilateral tonic-clonic seizure, Cerebellar gliosis, Increased... ORPHA:79243
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Myoclonus, Gliosis ORPHA:204
Spinocerebellar Ataxia 17
Myoclonus, Gliosis, Seizure OMIM:607136
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Delay... ORPHA:397951
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Seizure, Myoclonus, Gliosis, Elevated hepatic iron concentration, Basal gangli... OMIM:614946
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp... ORPHA:1528
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Leigh Syndrome, Nuclear
Gliosis, Failure to thrive OMIM:256000
Developmental And Epileptic Encephalopathy 36
Microcephaly, Delayed CNS myelination, Hydrocephalus, Cerebral atrophy OMIM:300884
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis OMIM:618369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Myoclonus, Gliosis, Seizure OMIM:221770
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis OMIM:105550
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Partial agenesi... OMIM:304100
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle OMIM:220200
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Microcephaly, Mitral regurgitation ORPHA:2462
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Seizure OMIM:612936
Lissencephaly 5
Leukoencephalopathy, Occipital encephalocele, Type II lissencephaly, Hypoplasia of the corpus cal... OMIM:615191
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Gliosis, Seizure ORPHA:457240
Lissencephaly, X-Linked, 2
Gliosis, Seizure OMIM:300215
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Ventriculomegaly, Thick corpus callosum, Communicating hydrocephalus, ... OMIM:617011
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cerebral cortical atrophy, Mitral regurgitation, Communicating hydrocephalu... ORPHA:309282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus, Periventricular white matter hyperintensities, Simplified gyral pattern OMIM:619470
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis, Seizure, Increased circulating ferritin concentration ORPHA:3240
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Leukodystrophy, Cerebral atrophy, Cerebral calcification, CSF lymphocytic pleio... OMIM:610333
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Gliosis, Failure to thrive OMIM:214150
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Gliosis, Seizure, Elevated circulating creatine kinase concentration OMIM:616239
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Hyperalaninemi... OMIM:619847
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral cortical atrophy, Thick corpus cal... ORPHA:457359
Huntington Disease-Like 1
Weight loss, Gliosis ORPHA:157941
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Abnormal cer... OMIM:613153
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Leukodystrophy, Cerebral atrophy, Increased CSF lactate, Increased CSF lysine c... OMIM:616034
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Frontotemporal Dementia With Motor Neuron Disease
Gliosis ORPHA:275872
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the corpus callosum, Microcephaly, Hydroc... OMIM:613155
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Agenesis of corpus callosum, Mild fetal ventriculomegaly, Microcephaly, Communicating ... OMIM:619841
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Failure to thrive ORPHA:280210
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Seizure OMIM:277470
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Seizure OMIM:256600
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Gliosis, Increased serum pyruvate, Basal ganglia gliosis OMIM:604377
Familial Acute Necrotizing Encephalopathy
Gliosis, Seizure ORPHA:88619
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Corpus callosum atrophy, Gl... OMIM:169500
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Secondary microcephaly, Hypoplasia of the corpus callosum, ... OMIM:618174
Fried Syndrome
Cerebral calcification, Hydrocephalus ORPHA:85335
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Alexander Disease
Increased CSF protein concentration, Diffuse demyelination of the cerebral white matter, Hydrocep... OMIM:203450
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Megalencephaly, Polymicrogyria ORPHA:83473
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral atrophy, Small basal gan... OMIM:616900
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Elevated circulating creatine kinase concentration, Generalized tonic s... OMIM:617193
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Gliosis, Failure to thrive ORPHA:261652
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Houge-Janssens Syndrome 2
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, D... OMIM:616362
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Kleeblattschaedel
Hydrocephalus OMIM:148800
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Megalencephaly, Thick corpus callosum OMIM:248000
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Mitochondrial Complex I Deficiency, Nuclear Type 2
Increased serum pyruvate, Gliosis, Seizure OMIM:618222
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Myoclonus, Hyperprolinemia, Hyperalaninemia, Gliosis, Bilateral ton... OMIM:620451
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Krabbe Disease
Increased CSF protein concentration, Peripheral demyelination, Diffuse cerebral atrophy, CNS demy... OMIM:245200
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Rosenthal fibers, Abnormal cerebral white matter morp... ORPHA:363717
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Type II liss... ORPHA:272
Intellectual Developmental Disorder, Autosomal Dominant 39
Thin corpus callosum, Hydrocephalus, Cerebral atrophy OMIM:616521
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Myoclonus, Gliosis, Seizure OMIM:618321
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly OMIM:602501
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Seizure, Gliosis, Myoclonic spasms, Bilateral tonic-clonic seizure OMIM:252160
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Po... ORPHA:370959
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Polymicrogyria, Mitral regurgitation, Hypoplasia of the corpus callosum, Hydroc... OMIM:603387
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Primary micr... ORPHA:289266
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:218350
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Microcephaly, Hyd... OMIM:225790
Parkinson Disease 1, Autosomal Dominant
Myoclonus, Gliosis OMIM:168601
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpu... ORPHA:2524
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Hypoplasia of the corpus callosum ORPHA:1516
Machado-Joseph Disease
Gliosis OMIM:109150
Congenital Toxoplasmosis
Microcephaly, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:858
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Typical absence seizure, Seizure, Myoclonus, Gliosis, Focal ... ORPHA:845
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourt... OMIM:220220
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Dysplastic corpus callosum OMIM:620135
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Tachycardia, Periventricular white matter hyperintensities, Secondary... OMIM:619737
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Gliosis OMIM:231680
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Seizure, Gliosis, Myoclonic spasms OMIM:252150
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Periventricular leukomalacia, Microcephaly, Colpocephaly, Delayed CNS myelinati... OMIM:619833
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis OMIM:607485
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Cerebral atrophy, Peripheral demyelination... OMIM:272200
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cerebral atrophy, Congestive heart failure OMIM:269920
Hereditary Late-Onset Parkinson Disease
Weight loss, Gliosis ORPHA:411602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Agenesis of corpus callosum, Microcephaly, Progressive microcephaly, Hydro... OMIM:615249
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Papillorenal Syndrome
Elevated circulating creatinine concentration, Gliosis, Seizure OMIM:120330
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:2770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Leukoencephalopathy, Hydrocephalus, Polymicrogyria OMIM:615181
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Leukodystrophy, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpu... OMIM:616538
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:175700
Leigh Syndrome
Seizure, Infantile spasms, Hyperalaninemia, Gliosis, Status epilepticus ORPHA:506
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Focal myoclonic seizure, Astrocytosis, Myoclonus, Gliosis, Generali... OMIM:203700
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Hydrocephalus, Delayed... ORPHA:2169
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypotriglyceridemia, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Decrea... ORPHA:404454
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Basal ganglia calcification, Abnormal electrophys... ORPHA:398124
Pallister-Hall-Like Syndrome
Glioma, Microcephaly, Occipital encephalocele, Hydrocephalus OMIM:241800
Microcephaly 26, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Hypoplasia of the corpus callosum... OMIM:619179
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Increased CSF lactate, Microcephaly, Dysplastic corpus callosum OMIM:604273
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Gliosis, Seizure, Bilateral tonic... OMIM:261515
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Astrocytoma, Hydrocephalus, Corti... OMIM:613001
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyria, Encephaloce... OMIM:253800
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dilated fourth ventricle, Dysplastic corpus callosum, Primary microcephal... ORPHA:357058
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Meningocele, Anenc... OMIM:611134
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal cerebral cortex morphology, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Mannosidosis, Alpha B, Lysosomal
Gliosis OMIM:248500
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum... OMIM:617281
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, CNS hypomyelination OMIM:619423
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Status epilepticus, Myoclonus, Gliosis, Seizure OMIM:301072
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Abnormal myelination, Microcephaly, Thin corpus callosum OMIM:617333
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydroc... ORPHA:1908
Glutaric Acidemia I
Hydrocephalus, Symmetrical progressive peripheral demyelination, Delayed myelination, Lateral ven... OMIM:231670
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, Hydr... ORPHA:60040
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:614219
Congenital Disorder Of Deglycosylation 1
Myoclonic seizure, Seizure, Myoclonus, Hyperalaninemia, Gliosis, Elevated circulating alpha-fetop... OMIM:615273
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 70
Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia OMIM:620157
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology ORPHA:171839
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Walker-Warburg Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Absent septum pelluc... ORPHA:899
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Hydrocephalus OMIM:300558
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Hypoplasia... OMIM:614643
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm, Infantile s... OMIM:620455
Hydrolethalus
Absent septum pellucidum, Anencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum OMIM:609757
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Tricuspid regurgitation, Probst bundles, Agenesis of corpus callosu... OMIM:612863
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifications, C... ORPHA:228308
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Hydrocephalus... OMIM:619895
Cerebral Visual Impairment
Focal cortical dysplasia, Ischemic stroke, Microcephaly, Abnormal cerebral white matter morpholog... ORPHA:447788
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal corpus callosum morphology, Microcephaly, Abnormal myelination, Cerebral atrophy ORPHA:442835
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morphology, Agenes... ORPHA:157
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microceph... ORPHA:96170
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Agenesis of corpus callosum, Hyperintensity of cerebral... OMIM:618476
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Generalized myoclonic seizure, Gliosis, Elevated hepatic iron concentration OMIM:300868
Joubert Syndrome 14
Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Meningocele, Intracranial hemorr... OMIM:614424
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum... OMIM:614576
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, CNS demyelination, Hydrocephalus, Cerebral atrophy OMIM:614886
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Mic... OMIM:609029
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Hypoplasia of the frontal lobes, Subarachnoid hemorrhage, Cerebe... ORPHA:97339
Tenorio Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Syncope, Raynaud phenomenon, Hydrocephalus, Cavum se... OMIM:616260
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:268261
Pettigrew Syndrome
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Microcephaly, Hydrocephalu... OMIM:304340
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Diets-Jongmans Syndrome
Gliosis, Seizure OMIM:618846
Monosomy 18Q
Aortic valve stenosis, Diffuse white matter abnormalities, Congestive heart failure, Mitral regur... ORPHA:1600
Helsmoortel-Van Der Aa Syndrome
Obesity, Failure to thrive, Gliosis, Truncal obesity OMIM:615873
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Delayed CNS myelination, Hydrocephalus, Righ... OMIM:618590
Diabetic Embryopathy
Microcephaly, Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:1926
Desmosterolosis
Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis ... ORPHA:35107
Joubert Syndrome With Renal Defect
Polymicrogyria, Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Microcephaly, Hydrocephalus OMIM:613330
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Delayed CNS myelination, Hydrocephalus, Hypoplasia of the corpus callosum OMIM:300514
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Failure to thrive OMIM:617403
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus c... ORPHA:544488
Cerebrofacioarticular Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp... ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Microcephaly... OMIM:613150
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Hypertrophic cardiomyopathy, Secondary microcephaly, Hydrocephalus, Dandy-Walker m... OMIM:612938
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Dandy... ORPHA:1647
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Cerebrotendinous Xanthomatosis
Gliosis, Seizure, Palatal tremor ORPHA:909
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Temple Syndrome
Hydrocephalus ORPHA:254516
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:3376
Trisomy 1Q
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:261344
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Periventricular leukomalacia, Hypoplasia of the corpus... ORPHA:500055
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Left-to-right shunt ORPHA:363444
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Dysplastic corpus callosum OMIM:618810
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cerebral hypoplasia, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, ... OMIM:257300
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Seizure, Gliosis, Hypertyrosinemia OMIM:124000
Joubert Syndrome With Ocular Defect
Polymicrogyria, Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t... OMIM:236670
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Astrocytosis, Portal hypertension, Microcephaly, Abnormal globus pal... ORPHA:309854
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Tetrasomy 5P
Congestive heart failure, Pericallosal lipoma, Pulmonary arterial hypertension, Hydrocephalus, He... ORPHA:3309
Bresek Syndrome
Microcephaly, Hydrocephalus ORPHA:85284
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malforma... OMIM:617822
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Encephalocele, Periventricular leukomalacia, Pu... ORPHA:974
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, ... OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Pseudotrisomy 13 Syndrome
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Holopros... OMIM:264480
Alexander Disease
Hypotension, Cerebral calcification, Agenesis of corpus callosum, Hydrocephalus, Aqueductal steno... ORPHA:58
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... ORPHA:457284
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:1812
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Crouzon Syndrome
Hydrocephalus ORPHA:207
Apert Syndrome
Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Hypertension ORPHA:87
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Temple Syndrome
Hydrocephalus OMIM:616222
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Cockayne Syndrome
Seizure, Gliosis, Hyperuricemia ORPHA:191
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Hyd... OMIM:616482
Peho Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Hydrocephalus, Porencephalic cyst ORPHA:2836
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Desmosterolosis
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Partial... OMIM:602398
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cerebral cortical atrophy, Delayed myelination, Hydrocephalus OMIM:239300
Rabin-Pappas Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia OMIM:620155
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Absent septum pellucidum, Histiocytoid cardiomyopathy, Agenesis o... OMIM:309801
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Basal Cell Nevus Syndrome 2
Calcification of falx cerebri, Hydrocephalus OMIM:620343
3C Syndrome
Aortic valve stenosis, Ventriculomegaly, Pulmonic stenosis, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Hemangioblastoma
Hydrocephalus ORPHA:252054
Joubert Syndrome
Polymicrogyria, Hydrocephalus, Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:475
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Cerebral at... ORPHA:79282
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Gabriele-De Vries Syndrome
Small for gestational age, Gliosis ORPHA:506358
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Hy... OMIM:612651
Lowry-Maclean Syndrome
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2409
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Agenesis of corpus callosum, Microcephaly, Delayed CNS myelination, Hydrocephalus, Aqueductal ste... OMIM:619512
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Trisomy 17P
Aortic valve stenosis, Microcephaly, Hydrocephalus ORPHA:261290
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:2318
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Hyperammonemia, Gliosis, Seizure OMIM:220111
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Hypoplasia of the corpus callosum ORPHA:67045
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Myocarditis, Myocardial infarction, Peri... ORPHA:3452
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Abnormal periventricular white matter morphology, Microcephaly, Abnormal cerebr... ORPHA:395
15Q Overgrowth Syndrome
Tricuspid regurgitation, Mitral regurgitation, Agenesis of corpus callosum, Pulmonary arterial hy... ORPHA:314585
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Microcephaly, Delayed CNS myelination, Hydrocephalus, Spina bifida OMIM:613776
Fg Syndrome Type 1
Ventriculomegaly, Pulmonary arterial hypertension, Hydrocephalus, Aplasia/Hypoplasia of the corpu... ORPHA:93932
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Basal ganglia calcification, Astrocytosis, Subcortical white... ORPHA:90324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cerebral calcific... ORPHA:505248
Thanatophoric Dysplasia, Type I
Hydrocephalus, Temporal lobe dysplasia OMIM:187600
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Congenital Sialidosis Type 2
Telangiectasia, Hydrocephalus, Abnormal EKG ORPHA:93400
Rhombencephalosynapsis
Ventriculomegaly, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Megalencephaly OMIM:613603
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Hydrocephalus, Abnormal CNS myelination OMIM:607014
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Dilated third ventricle, Lateral ventricle dilatation, Leukodystrophy, Hydrocephalus OMIM:619575
Arachnoiditis
Hydrocephalus ORPHA:137817
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:610828
Neurooculorenal Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis... OMIM:620305
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Hydrocephalus, Demyelinating peripheral neuropathy ORPHA:220295
Muenke Syndrome
Hydrocephalus ORPHA:53271
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Hydrocephalus ORPHA:1834
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Joubert Syndrome 2
Abnormal corpus callosum morphology, Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Sturge-Weber Syndrome
Cerebral cortical atrophy, Pulmonary embolism, Cerebral calcification, Conjunctival telangiectasi... ORPHA:3205
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Cardiofaciocutaneous Syndrome 1
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy... OMIM:115150
Stromme Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:243605
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr... OMIM:311200
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Portal hypertension, Aplasia/Hypoplasia of the corpus cal... ORPHA:1454
Marshall-Smith Syndrome
Ventriculomegaly, Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, ... OMIM:602535
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Microcephaly, Encephalocele ORPHA:1865
1Q21.1 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hypoplasia of the corpus callosum, Hydro... OMIM:616546
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel... ORPHA:137667
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Hypotension, Microcephaly, Pulmonary arterial hypertension, Hydrocepha... OMIM:277400
Multiple Sulfatase Deficiency
Microcephaly, Hydrocephalus ORPHA:585
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Iniencephaly
Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, H... ORPHA:63259
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Congestive heart failure OMIM:309900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cerebral cortical atrophy, Telangiectasia of the skin, Hydrocephalus OMIM:616007
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hypertension, Hydrocephalus OMIM:616914
Apert Syndrome
Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Megalence... OMIM:101200
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Genitopalatocardiac Syndrome
Microcephaly, Hydrocephalus ORPHA:2075
Osteopetrosis, Autosomal Recessive 5
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Microcephaly, Hydrocephalus OMIM:259720
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... OMIM:151050
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita... OMIM:253200
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Open operculum, Dilated fourth ventricle, Hypoplasia of the corpus callo... ORPHA:434179
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Hydrocephalus ORPHA:1555
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Mixed demyelinating and axonal polyneuropathy, Periventricular leukomalacia, Microcephaly, Abnorm... ORPHA:466768
Laurin-Sandrow Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2378
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Mirage Syndrome
Intracranial hemorrhage, Hydrocephalus OMIM:617053
Achondroplasia
Hydrocephalus ORPHA:15
Dextrocardia
T-wave inversion, Hydrocephalus, Abnormal EKG ORPHA:1666
Coccidioidomycosis
Increased CSF protein concentration, Vasculitis, Vasospasm, Hypoglycorrhachia, Cerebral ischemia,... ORPHA:228123
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Neurofibromatosis, Type I
Astrocytoma, Optic nerve glioma, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension OMIM:162200
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Arrhyt... ORPHA:2162
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Cerebral cortical atrophy, Hydrocephalus, Pulmonic stenosis ORPHA:1340
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure ORPHA:579
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Cerebrooculonasal Syndrome
Ventriculomegaly, Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker m... OMIM:605627
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Fanconi Anemia, Complementation Group D2
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:227646
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Trisomy 8P
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Heart murmur, Dandy-Walker malformation ORPHA:264450
Hurler Syndrome
Angina pectoris, Hypertension, Hydrocephalus, Cardiomyopathy ORPHA:93473
Aymé-Gripp Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Hydrocephalus, Pe... ORPHA:1272
Crouzon Syndrome
Hydrocephalus OMIM:123500
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Thin corpus ca... OMIM:610829
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Holoprosen... ORPHA:2166
H Syndrome
Abnormal cardiovascular system physiology, Facial telangiectasia, Hydrocephalus ORPHA:168569
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Cardiomyopathy OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Hy... OMIM:210710
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus OMIM:130720
Zttk Syndrome
Aortic regurgitation, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus ca... OMIM:617140
Achondroplasia
Hydrocephalus, Megalencephaly OMIM:100800
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Cardiomyopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Cardiomyopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... ORPHA:363958
Isotretinoin-Like Syndrome
Aortic valve stenosis, Microcephaly, Hydrocephalus ORPHA:2306
Orofaciodigital Syndrome Ii
Porencephalic cyst, Hydrocephalus OMIM:252100
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Craniopharyngioma
Myocardial infarction, Cerebral calcification, Cerebral ischemia, Hydrocephalus ORPHA:54595
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, ... OMIM:270400
Meckel Syndrome, Type 1
Ventriculomegaly, Cerebral hypoplasia, Occipital encephalocele, Dilated fourth ventricle, Agenesi... OMIM:249000
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Marden-Walker Syndrome
Microcephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventriculomegaly, Leukodystrophy, Congestive heart failure, Peripheral demy... OMIM:619475
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:300373
Congenital Syphilis
Myocarditis, Hydrocephalus, CSF pleocytosis ORPHA:499009
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern ORPHA:96121
Dubowitz Syndrome
Spina bifida occulta, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:235
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Anencephaly, Hydrocephalus OMIM:269860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Hydrocephalus OMIM:182212
Monosomy 9Q22.3
Ventriculomegaly, Calcification of falx cerebri, Hydrocephalus ORPHA:77301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Lateral vent... ORPHA:500150
Raine Syndrome
Microcephaly, Cerebral calcification, Hydrocephalus OMIM:259775
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Full Nf2-Related Schwannomatosis
Glioma, Myelopathy, Ependymoma, Astrocytoma, Hydrocephalus ORPHA:637
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis OMIM:231005
Mucopolysaccharidosis Type 3
Reduced left ventricular ejection fraction, Ventriculomegaly, Hydrocephalus, Atrioventricular block ORPHA:581
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Anencephal... ORPHA:564
Gorlin Syndrome
Cerebral calcification, Calcification of falx cerebri, Hydrocephalus ORPHA:377
Mend Syndrome
Aortic valve stenosis, Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Dilated cardiomyopathy, Lateral ventricle dilatat... OMIM:607872
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Heart murmur, Intracranial hemorrhage, Microcephaly, Hydrocephalus ORPHA:163979
Fanconi Anemia, Complementation Group L
Delayed CNS myelination, Hydrocephalus OMIM:614083
Basal Cell Nevus Syndrome 1
Calcification of falx cerebri, Hydrocephalus, Spina bifida OMIM:109400
Lenz-Majewski Hyperostotic Dwarfism
Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
Jacobsen Syndrome
Microcephaly, Holoprosencephaly, Hydrocephalus OMIM:147791
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Abnormal heart rate variability, Neural... ORPHA:93924
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Leukoencephalopathy, Focal cortical dysplasia, Ischemic stroke, Corneal neovascularization, Schiz... OMIM:175780
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Cryptococcosis
Cerebral edema, Hydrocephalus, Cerebral cortical atrophy ORPHA:1546
Yunis-Varon Syndrome
Cardiomyopathy, Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Pulmonary arterial ... ORPHA:3472
Degcags Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Pulmonary arterial hypertension, Tac... OMIM:619488
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Kabuki Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Hydrocephalus ORPHA:2322
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Microcephaly, Hydrocephalus, Polymicrogyria OMIM:154400
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Witteveen-Kolk Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, De... OMIM:613406
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Corneal neovascularization, Microcephaly, Hydro... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosu... OMIM:253280
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, M... OMIM:194190
Fanconi Anemia
Ventriculomegaly, Hypertrophic cardiomyopathy, Microcephaly, Hydrocephalus, Spina bifida ORPHA:84
Hajdu-Cheney Syndrome
Aortic valve stenosis, Hydrocephalus, Mitral stenosis ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction cardiomyopathy, Thick corpus callosum OMIM:300967
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Hydrocephalus ORPHA:95699
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Microcephaly, Hydrocephalus ORPHA:261337
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Spontaneous, recurrent epistaxis, Pulmonary ... ORPHA:2072
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Mitral stenosis, Hydrocephalus, Aqueductal stenosis, Pulmonic stenosis OMIM:306955
Costello Syndrome
Ventriculomegaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Hydrocephalus, Pulmo... OMIM:218040
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Mitral regurgitation, Hypoplasia of the corpus callosum, Optic nerve... ORPHA:363700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Dysplastic corpus callosum, Abnormal cardiac ventricular function, Hypop... ORPHA:466791
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly ORPHA:2369
Wiedemann-Rautenstrauch Syndrome
CNS hypomyelination, Leukodystrophy, Polymicrogyria, Abnormal corpus striatum morphology, Agenesi... ORPHA:3455
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Focal Dermal Hypoplasia
Myelomeningocele, Agenesis of corpus callosum, Telangiectasia, Microcephaly, Hydrocephalus, Spina... OMIM:305600
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Hypoplasia of the corpus callosum, Microcephaly, Pulmonary arterial hype... OMIM:612289
Wiedemann-Rautenstrauch Syndrome
Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation, Sudanophilic leukodystrophy OMIM:264090
Osteogenesis Imperfecta
Aortic regurgitation, Ventriculomegaly, Hydrocephalus, Cerebral hemorrhage, Noncommunicating hydr... ORPHA:666
Tetrasomy 9P
Lissencephaly, Polymicrogyria, Pulmonary arterial hypertension, Raynaud phenomenon, Hydrocephalus... ORPHA:3310
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Meningioma
Syncope, Hydrocephalus, Cerebral hemorrhage ORPHA:2495
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Frontotemporal cerebral atrophy, CNS hypomyelination, ... OMIM:619534
Neurofibromatosis Type 1
Astrocytoma, Optic nerve glioma, Hypertension, Hydrocephalus ORPHA:636
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus ORPHA:538
Peters Plus Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph... ORPHA:709
Baller-Gerold Syndrome
Polymicrogyria, Spina bifida occulta, Hydrocephalus, Agenesis of corpus callosum OMIM:218600
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Fraser Syndrome 1
Abnormal cortical gyration, Myelomeningocele, Encephalocele, Microcephaly, Hydrocephalus OMIM:219000
Fetal Akinesia Deformation Sequence 1
Absent septum pellucidum, Hydrocephalus, Cavum septum pellucidum OMIM:208150
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Peters-Plus Syndrome
Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Pul... OMIM:261540
Gaucher Disease
Ventriculomegaly, Pulmonary arterial hypertension, Hydrocephalus ORPHA:355
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hydrocephalus ORPHA:667
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Microcephaly, Hydrocephalus, Cavum septum pellucidum, Aqueductal stenosis, Dand... OMIM:616462
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Hydrocephalus OMIM:619321
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Agenesis of corpus callosum, Arrhythmia, Hydrocephalus, Pulmonic stenosis OMIM:312870
Kabuki Syndrome 1
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:147920
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Townes-Brocks Syndrome 1
Microcephaly, Holoprosencephaly, Hydrocephalus OMIM:107480
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida OMIM:304120
Roberts-Sc Phocomelia Syndrome
Microcephaly, Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Alexander Disease Type Ii
Periventricular cysts, Abnormal periventricular white matter morphology 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
Gfaptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gfaptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gfaptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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