Gene: Llgl1 MGI:102682

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

LLGL1 scribble cell polarity complex component

Synonyms:

Lgl1

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 Llgl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Llgl1 (0 diseases)
Human diseases predicted to be associated with Llgl1 (861 diseases)

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

The table below shows human diseases predicted to be associated to Llgl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto...	OMIM:604213
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Abnormal neuron morphology, Simplified gyral pattern	ORPHA:329228
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615938
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615937
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Lissencephaly 1	Ventriculomegaly, Dilation of Virchow-Robin spaces, Pachygyria, Agyria, Gray matter heterotopia, ...	OMIM:607432
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus	OMIM:618709
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum	OMIM:614019
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Death in infancy	OMIM:618266
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage	ORPHA:401986
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern	OMIM:617800
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Death in infancy, Simplified gyral pattern	OMIM:617668
Brain Small Vessel Disease 2	Subcortical heterotopia, Ventriculomegaly, Intracranial hemorrhage, Polymicrogyria	OMIM:614483
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus call...	OMIM:619302
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe...	OMIM:620315
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila...	OMIM:619517
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly	ORPHA:2185
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdural hemorrhage, Lateral vent...	OMIM:618291
Lissencephaly 3	Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosu...	OMIM:611603
Pontocerebellar Hypoplasia, Type 14	Simplified gyral pattern, Hydrocephalus, Death in infancy, Agenesis of corpus callosum	OMIM:619301
Edinburgh Malformation Syndrome	Hydrocephalus, Death in infancy	OMIM:129850
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Petechiae, Cerebral ...	OMIM:617397
Microlissencephaly	Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopi...	ORPHA:1083
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Vascular dilatation, Hydrocephalus, Lateral ventricle dilatation	OMIM:602200
Dural Sinus Malformation	Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly, Simplified gyral pattern	OMIM:615763
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Ventriculomegaly, Lissencephaly, Periventricular ribbonlike heterotopia	OMIM:618677
Porencephaly	Ventriculomegaly	ORPHA:2940
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:618736
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ...	ORPHA:90065
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly, Neonatal death	OMIM:614870
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly, Polymicrogyria	OMIM:612691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	OMIM:614830
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Degeneration of anterior horn cells	OMIM:607596
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocephalus, Intraventricular hemorrhage	OMIM:613603
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Lateral ventricle dilatation	OMIM:618330
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Hydrocephalus, Polymicrogyria	OMIM:614219
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Neonatal death, Bradycardia, Decreased CSF glutamine concentration,...	OMIM:610015
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation	OMIM:221770
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Ventriculomegaly, Type II lissencephaly, Death in childhood, Agenesis of corpus ca...	OMIM:613153
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Death in childhood, Death in infancy, Neonatal death, Death in adolescence...	OMIM:619055
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Pachygyria, Ventriculomegaly, Lissencephaly, Polymicrogyria	OMIM:618730
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Increased CSF lactate, Abnormal C...	ORPHA:79243
Periventricular Nodular Heterotopia 1	Stroke, Abnormality of neuronal migration, Cerebral hemorrhage, Gray matter heterotopia, Patent d...	OMIM:300049
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Intraventricular hemorrhage	OMIM:616430
Craniotelencephalic Dysplasia	Lissencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Intellectual Developmental Disorder, Autosomal Dominant 48	Lateral ventricle dilatation, Polymicrogyria, Umbilical hernia, Dilated fourth ventricle, Patent ...	OMIM:617751
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern	ORPHA:284417
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
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
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy	OMIM:258320
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra...	OMIM:605714
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ...	ORPHA:331
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra...	ORPHA:136
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Agenesis of corpus callosum	OMIM:619501
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Elevated CSF D-2-hydroxygluta...	OMIM:600721
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage	ORPHA:98880
Neurocutaneous Melanocytosis	Ventriculomegaly, Death in infancy, Abnormality of neuronal migration, Meningocele, Intracranial ...	ORPHA:2481
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria	OMIM:608629
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Simplified gyral pattern	OMIM:619470
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:2466
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Alexander Disease	Increased CSF protein concentration, Death in childhood, Death in infancy, Death in adolescence, ...	OMIM:203450
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Death in adolescence, Ventriculomegaly, Death in childhood	OMIM:616486
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Ventriculomegaly, Abnormality of neuronal migration	ORPHA:1980
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Bowen-Conradi Syndrome	Ventriculomegaly, Death in infancy	ORPHA:1270
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Simplified gyral pattern	OMIM:613402
Microcephaly 5, Primary, Autosomal Recessive	Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:608716
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus	OMIM:304100
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus	ORPHA:250994
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hydrocephalus	OMIM:300884
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Death in early adulthood, Cerebral amyloid angiopathy	ORPHA:100006
Distal 7Q11.23 Microduplication Syndrome	Aortic aneurysm, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Cach Syndrome	Lateral ventricle dilatation, Dysgyria	ORPHA:135
Sneddon Syndrome	Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Death in childhood, Death in infancy, Increased CSF lysi...	OMIM:616034
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce...	ORPHA:280679
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Hydrocephalus, Polymicrogyria	ORPHA:83473
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Death in early adulthood, Cerebral amyloid angiopathy	ORPHA:100008
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti...	ORPHA:363958
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Pachygyria, Agyria, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation	ORPHA:2148
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Fried Syndrome	Hydrocephalus	ORPHA:85335
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Microcephaly 17, Primary, Autosomal Recessive	Microlissencephaly, Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:617090
Moyamoya Disease	Telangiectasia, Ventriculomegaly, Abnormal cerebral vascular morphology	ORPHA:2573
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Tricuspid regurgitation, Agenesis of corpus callosum, Persistent fe...	OMIM:612863
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus, Death in childhood	OMIM:610333
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Hemimegalencephaly	Ventriculomegaly, Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia	ORPHA:99802
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Simplified gyral pattern, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corp...	OMIM:619244
Melanosis, Neurocutaneous	Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617613
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Agenesis of corpus callosum	OMIM:616570
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:85179
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Agenesis of corpus callosum	OMIM:618286
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Pulmonic stenosis, Umbilical hernia	OMIM:618914
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Tricuspid...	OMIM:620371
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Normal pressure hydrocephalu...	ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Increased CSF protein concentration, Ventriculomegaly, Death in infancy	OMIM:611722
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, Cerebral isch...	ORPHA:137667
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:618577
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotop...	OMIM:615219
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Congenital Disorder Of Glycosylation, Type Iiy	Ventriculomegaly, Agenesis of corpus callosum	OMIM:620200
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia	ORPHA:380
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Polymicrogyria, Death in infancy, Agenesis of corpus ca...	OMIM:608836
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus	ORPHA:272
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lateral ventricle dilatation	OMIM:619995
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Da...	OMIM:225790
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ...	OMIM:614643
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pachygyria, Hydrocephalus	OMIM:618174
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa...	OMIM:620300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:602501
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Patent ductu...	OMIM:220220
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood	OMIM:612301
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Congestive heart failure	OMIM:300886
Coach Syndrome 2	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly, Restrictive cardiomyopathy, Sudden cardiac death	OMIM:115210
Primary Angiitis Of The Central Nervous System	Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra...	ORPHA:140989
Slc35A2-Cdg	Tetralogy of Fallot, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly	OMIM:618383
Peho-Like Syndrome	Pachygyria, Ventriculomegaly, Lissencephaly, Polymicrogyria	OMIM:617507
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly	ORPHA:1261
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Death in childhood	OMIM:619847
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Pa...	OMIM:616212
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Hydrocephalus, Umbilical hernia	ORPHA:1516
Macdermot-Winter Syndrome	Ventriculomegaly, Death in infancy	OMIM:247990
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lissencephaly,...	ORPHA:370959
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Hydrocephalus	OMIM:615599
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:218350
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus	OMIM:620156
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Lissencephaly Due To Tuba1A Mutation	Ventriculomegaly, Polymicrogyria, Dilated fourth ventricle, Agenesis of corpus callosum, Dysplast...	ORPHA:171680
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosenceph...	ORPHA:93274
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Lateral ventricle dilatation, Bradycardia	ORPHA:565624
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Lissencephaly 8	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agyria	OMIM:617255
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co...	OMIM:300952
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle di...	OMIM:619575
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Erythrocytosis, Familial, 2	Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Ventriculomegaly, A...	ORPHA:255182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy	OMIM:613155
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Hydrocephalus, Polymicrogyria	OMIM:615181
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ve...	ORPHA:544488
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi...	OMIM:177850
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca...	OMIM:619955
Infantile Sialic Acid Storage Disease	Hydrocephalus, Death in childhood, Congestive heart failure	OMIM:269920
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Cardiomyopathy	ORPHA:572798
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Noonan Syndrome 14	Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom...	OMIM:619745
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Choroid plexus cyst, Spina...	OMIM:304050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Polymicrogyria, Mitral regurgitation, Hydrocephalus, Pachygyria, Vascular ring	OMIM:603387
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Distal Deletion 10Q	Spina bifida occulta, Patent ductus arteriosus, Lateral ventricle dilatation	ORPHA:96148
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma...	OMIM:614424
Joubert Syndrome 30	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Wal...	OMIM:617622
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Riddle Syndrome	Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia	ORPHA:420741
Microhydranencephaly	Pachygyria, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum	OMIM:605013
Parkes Weber Syndrome	Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Venous malformati...	ORPHA:90307
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus, Umbilical hernia	ORPHA:2181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Arteriovenous malformation, Polymicrogyria, Cerebral ischemia, Arrhythmia, Tela...	ORPHA:60040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Agyria, Lissencephaly	OMIM:615249
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria	OMIM:618731
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventriculomegaly, Vascular dilatation, Hydrocephalus	OMIM:219730
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Mosaic Trisomy 1	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Coarctation of aorta, ...	ORPHA:1692
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi...	ORPHA:449285
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Thanatophoric Dysplasia	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus	ORPHA:2655
Amish Lethal Microcephaly	Ventriculomegaly, Death in infancy, Agenesis of corpus callosum, Spina bifida, Lissencephaly	ORPHA:99742
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly, Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Death in childhood	OMIM:618251
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Houge-Janssens Syndrome 2	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:616362
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Aase-Smith Syndrome I	Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Pseudo-Torch Syndrome 3	Hypertension, Death in infancy, Cerebral hemorrhage	OMIM:618886
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Double outlet right vent...	OMIM:619895
Den Hoed-De Boer-Voisin Syndrome	Death in adolescence, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619229
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Leukoencephalopathy With Vanishing White Matter 4	Ventriculomegaly	OMIM:620314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyria, Encephaloce...	OMIM:253800
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Ventriculomegaly, Perisylvian polymicrogyria	OMIM:616531
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Patent ductus arteriosus, Umbilical hernia	OMIM:277590
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Portal hypertension, Hypertension, Increased blood pressure, Perica...	OMIM:619487
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum, Pulmonary art...	ORPHA:464738
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Hydrocephalus	ORPHA:447788
Microcephaly-Cardiomyopathy Syndrome	Ventriculomegaly, Dilated cardiomyopathy	ORPHA:2515
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Encephalocele, Hydrocephalus, Pulmonary artery atresia, M...	ORPHA:1908
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Umbilical hernia, Hypertrophic cardiomyopathy, Death in childhood, Hydrocephalus, ...	OMIM:612938
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia	OMIM:175700
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Walker-Warburg Syndrome	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus c...	ORPHA:899
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus	OMIM:619833
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Congenital Neuronal Ceroid Lipofuscinosis	Pachygyria, Vascular granular osmiophilic material deposition, Ventriculomegaly, Agenesis of corp...	ORPHA:168486
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Fetal Gaucher Disease	Intracranial hemorrhage, Stillbirth, Death in infancy, Neonatal death	ORPHA:85212
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Death in infancy	OMIM:241800
Neuronal Intranuclear Inclusion Disease	Increased CSF protein concentration, Ventriculomegaly, Syncope, CSF pleocytosis	OMIM:603472
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Tetralogy of Fallot, Pa...	OMIM:210710
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Orofaciodigital Syndrome Xv	Ventriculomegaly, Agenesis of corpus callosum	OMIM:617127
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly, Death in childhood	OMIM:203740
Baraitser-Winter Syndrome 2	Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum	OMIM:614583
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Death in infancy	OMIM:615485
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhage, Communicating hy...	ORPHA:25
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Death in infancy, Agenesis of corpus callosum, Pachygyria, Patent ductus arteri...	ORPHA:452
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Type II lissencephaly, Encephalocele, Death in infancy, Agenesis of corpus call...	OMIM:613150
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis, Congestive heart failure	ORPHA:163596
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus	OMIM:609757
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern	OMIM:619180
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage	OMIM:620278
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Death in childhood, Agenesis of ...	OMIM:618651
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Hydrocephalus, Umbilical hernia	ORPHA:171839
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased CSF lactate, Death in adolescence, Ventriculomegaly, Pulmonary arterial hypertension	OMIM:619059
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Abnormal cortical gyration, Abnormal bleeding, Death in infancy, Hydrocephalus,...	OMIM:614576
Hydranencephaly	Ventriculomegaly, Dilatation of the ventricular cavity, Abnormal internal carotid artery morpholo...	ORPHA:2177
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:2184
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Ventriculomegaly, Agenesis of corpus callosum	OMIM:615286
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Pulmonary arterial hypertension, Death in infancy, Bradycardia	OMIM:616299
Desmosterolosis	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus c...	ORPHA:35107
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
Lissencephaly, X-Linked, 2	Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Ventriculomegaly, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Right bundle bra...	ORPHA:206559
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation, Orthostatic hypotension	ORPHA:2822
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle, Hyd...	OMIM:220210
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Bresek Syndrome	Hydrocephalus, Neonatal death	ORPHA:85284
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Death in infancy, Neonatal death	OMIM:613730
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Lateral ventricle dilatation	OMIM:617557
Temple Syndrome	Hydrocephalus	ORPHA:254516
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Ventriculomegaly, Dilated fourth ventricle, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:620428
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Hydrocephalus	OMIM:243440
Diabetic Embryopathy	Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the great ar...	ORPHA:1926
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Ventriculomegaly, Gray matter heterotopia	ORPHA:370980
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Dextrotransposition of the great arteries, Agenesis of corpus cal...	OMIM:618619
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus, Dandy-...	OMIM:618476
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Periventricular heterotopia, Patent ductus arteriosus	OMIM:618974
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Mirage Syndrome	Intracranial hemorrhage, Petechiae, Patent ductus arteriosus, Hydrocephalus	OMIM:617053
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Vascular tortuosity, Agenesis of corpus callosum, Prominent superficial ...	OMIM:612940
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
B4Galt1-Cdg	Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Ventriculomegaly, Frontal polymicrogyria, Perisylvian polymicrogyria	OMIM:606854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Agyria, Hydrocephalus, Polymicrogyria	OMIM:616538
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Neonatal death	OMIM:187600
3C Syndrome	Aortic valve stenosis, Ventriculomegaly, Tetralogy of Fallot, Death in infancy, Abnormality of ne...	ORPHA:7
Joubert Syndrome With Renal Defect	Polymicrogyria, Hydrocephalus, Encephalocele, Agenesis of corpus callosum	ORPHA:220497
Galloway-Mowat Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617731
Tetrasomy 15Q26	Hypoplastic aortic arch, Patent ductus arteriosus, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Tricuspid regurgitation, Death in infancy, Coarctation of aorta, Spina bifida, ...	ORPHA:1120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Joubert Syndrome 9	Ventriculomegaly, Encephalocele	OMIM:612285
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, A...	ORPHA:157
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Osteogenesis Imperfecta	Arterial dissection, Aortic regurgitation, Ventriculomegaly, Aortic root aneurysm, Aortic dissect...	ORPHA:666
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce...	OMIM:613686
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neu...	ORPHA:228308
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Lateral ventricle dilatation, Pachygyria	OMIM:263520
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Chromosome 6Pter-P24 Deletion Syndrome	Umbilical hernia, Tetralogy of Fallot, Agenesis of corpus callosum, Telangiectasia, Hydrocephalus...	OMIM:612582
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly	OMIM:617051
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus	ORPHA:1860
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Persistent left superior vena cava, Transposition of the great arteries, Hydrocephalus, Neonatal ...	OMIM:314390
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Abnormal electrophysiology of ...	ORPHA:398124
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Dilated fourth ventricle, Lateral ventricle dilatation, Patent ductus arteri...	OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly	OMIM:613151
Trisomy 1Q	Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:261344
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage	ORPHA:49566
Arachnoiditis	Hydrocephalus	ORPHA:137817
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria	ORPHA:1647
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Lateral ventricle dilatation	ORPHA:177907
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Death in infancy, Coarctation of aorta, Hydrocephalus, Patent ductus arteriosus	OMIM:300514
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Ventriculomegaly	ORPHA:2524
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Tubulinopathy-Associated Dysgyria	Pachygyria, Ventriculomegaly, Agyria, Dysgyria	ORPHA:467166
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Aortic aneurysm...	ORPHA:536545
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Death in infancy	ORPHA:163966
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Alkuraya-Kucinskas Syndrome	Lissencephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Dandy-Walker malformation	OMIM:617822
Joubert Syndrome With Ocular Defect	Polymicrogyria, Hydrocephalus, Encephalocele, Agenesis of corpus callosum	ORPHA:220493
Meningioma	Syncope, Hydrocephalus, Cerebral hemorrhage	ORPHA:2495
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Ventriculomegaly, Concentric hypertrophic cardiomyopathy, Hype...	OMIM:618052
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Ventriculomegaly, Umbilical hernia, Polymicrogyria, Petechia...	OMIM:251290
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short umbilical cord	OMIM:618367
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Retinal telangiectasia	OMIM:620157
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hypertension, Hydrocephalus	ORPHA:2169
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Coarctation of aorta, Hydrocephalus, ...	OMIM:264480
Hypophosphatasia, Infantile	Intracranial hemorrhage, Death in infancy, Stillbirth	OMIM:241500
Temple Syndrome	Hydrocephalus	OMIM:616222
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Agenesis of corpus callosum, Truncus arteriosus, Pulmoni...	ORPHA:96170
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly	ORPHA:2172
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly	ORPHA:521390
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern, Agenesi...	OMIM:617669
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia	ORPHA:2119
Menkes Disease	Intracranial hemorrhage, Death in childhood	OMIM:309400
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Pulmonic stenosis, Hydrocephalus, Pa...	OMIM:609029
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc...	OMIM:175780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Lateral ventricle dilatation, Death in infancy	OMIM:300868
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Simplified gyral pattern	OMIM:615760
Joubert Syndrome	Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria	ORPHA:475
Primary Ciliary Dyskinesia	Ventriculomegaly, Abnormal inferior vena cava morphology, Persistent left superior vena cava, Tra...	ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of cor...	OMIM:236670
Phace Syndrome	Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Agenesis of corpu...	ORPHA:42775
Tenorio Syndrome	Raynaud phenomenon, Ventriculomegaly, Syncope, Hydrocephalus	OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Agenesis of corpus callosum, Hy...	OMIM:615287
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Ventriculomegaly, Agenesis of corpus callosum, Pachygyria, Patent ductus a...	OMIM:243310
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Superficial Siderosis	Increased CSF protein concentration, Arteriovenous malformation, Abnormal bleeding, Abnormal vert...	ORPHA:247245
Arachnoid Cyst	Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros...	ORPHA:2356
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Aspergillosis	Stroke, Eosinophilia, Intracranial hemorrhage	ORPHA:1163
Helsmoortel-Van Der Aa Syndrome	Mitral regurgitation, Heart murmur, Ventriculomegaly, Lateral ventricle dilatation	OMIM:615873
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Portal hypertension...	ORPHA:974
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpu...	OMIM:613001
Hellp Syndrome	Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage	ORPHA:244242
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time	ORPHA:3226
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Tra...	ORPHA:500150
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Retinal neovascularization	OMIM:619074
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele	ORPHA:2318
Joubert Syndrome 31	Ventriculomegaly	OMIM:617761
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventriculomegaly, Increased CSF lactate, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pu...	OMIM:619051
Desmosterolosis	Ventriculomegaly, Total anomalous pulmonary venous return, Hydrocephalus, Partial agenesis of the...	OMIM:602398
Combined Oxidative Phosphorylation Deficiency 39	Ventriculomegaly, Increased CSF lactate, Death in childhood, Sinus bradycardia, Pachygyria, Simpl...	OMIM:618397
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Acromelic Frontonasal Dysplasia	Ventriculomegaly, Encephalocele, Agenesis of corpus callosum, Choroid plexus cyst, Meningocele	ORPHA:1827
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure	OMIM:181270
16Q24.3 Microdeletion Syndrome

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