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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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, 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