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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 (855 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	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Lissencephaly 1	Dilation of Virchow-Robin spaces, Subcortical band heterotopia, Gray matter heterotopia, Lissence...	OMIM:607432
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	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	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum, Simplified gyral pattern, Lissencephaly	OMIM:614019
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Lateral ventricle dilatation	OMIM:618266
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly	OMIM:617800
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
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	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila...	OMIM:619517
Lissencephaly 3	Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, ...	OMIM:611603
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebr...	OMIM:618291
Edinburgh Malformation Syndrome	Death in infancy, Hydrocephalus	OMIM:129850
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation	OMIM:602200
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S...	ORPHA:97339
Pseudo-Torch Syndrome 2	Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Gray matter heterotopia, Lateral...	OMIM:617397
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia	OMIM:618677
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Simplified gyral pattern, Ventriculomegaly	OMIM:615763
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Porencephaly	Ventriculomegaly	ORPHA:2940
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly	OMIM:612691
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Lateral ventricle dilatation	OMIM:607596
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, 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	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Lateral ventricle dilatation	OMIM:618330
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Neonatal death, Decreased CSF glut...	OMIM:610015
Adams-Oliver Syndrome 2	Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation	OMIM:614219
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation	OMIM:221770
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Lissencephaly, Death ...	OMIM:613153
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Increased CSF lactate, Prolo...	OMIM:619055
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn...	ORPHA:79243
Periventricular Nodular Heterotopia 1	Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het...	OMIM:300049
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Pachygyria, Lissencephaly, Polymicrogyria, Ventriculomegaly	OMIM:618730
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Ventriculomegaly	OMIM:616430
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Lissencephaly	ORPHA:1528
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Patent ductus arteriosus, Lateral ventricle dilatation, Umbilical herni...	OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di...	OMIM:613154
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 Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	ORPHA:324416
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Dandy-...	ORPHA:2481
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus	OMIM:258320
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Simplified gyral pattern	OMIM:619470
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Alexander Disease	Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ...	OMIM:203450
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Bowen-Conradi Syndrome	Death in infancy, Ventriculomegaly	ORPHA:1270
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria	OMIM:608629
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Death in adolescence, Ventriculomegaly, Death in childhood	OMIM:616486
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Abnormality of neuronal migration, Subcutaneous hemorrhage	ORPHA:1980
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Microcephaly 5, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:608716
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Microcephaly, Seizures, And Developmental Delay	Simplified gyral pattern, Ventriculomegaly	OMIM:613402
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy, Lateral ventricle dilatation, Subependymal cysts	OMIM:600721
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hydrocephalus	OMIM:300884
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Abeta Amyloidosis, Dutch Type	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm	ORPHA:261102
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concen...	OMIM:616034
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Cach Syndrome	Lateral ventricle dilatation, Dysgyria	ORPHA:135
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Microcephaly 17, Primary, Autosomal Recessive	Microlissencephaly, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:617090
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Acys Amyloidosis	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen...	ORPHA:363958
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Polymicrogyria, Hydrocephalus	ORPHA:83473
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Pachygyria, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Agyria	ORPHA:2148
Fried Syndrome	Hydrocephalus	ORPHA:85335
Moyamoya Disease	Ventriculomegaly, Abnormal cerebral vascular morphology, Telangiectasia	ORPHA:2573
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, L...	OMIM:612863
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Melanosis, Neurocutaneous	Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Hemimegalencephaly	Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly	ORPHA:99802
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly, Death in childhood	OMIM:610333
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Simplified gy...	OMIM:619244
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617613
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Ventriculomegaly	OMIM:616570
Macrocephaly, Acquired, With Impaired Intellectual Development	Agenesis of corpus callosum, Ventriculomegaly	OMIM:618286
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Lateral ventricle dilatation, Pulmonic stenosis	OMIM:618914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ...	ORPHA:300570
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Death in infancy, Increased CSF protein concentration, Ventriculomegaly	OMIM:611722
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pachygyria	OMIM:618174
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly	OMIM:620200
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Type II lissencephaly, Ventriculomegaly	ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va...	OMIM:220220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Abnormality of neur...	OMIM:608836
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Dextrotransposition of the great arteries	OMIM:619995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyr...	OMIM:614643
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Polymicro...	OMIM:225790
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re...	OMIM:620300
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension...	OMIM:300845
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood	OMIM:612301
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Coach Syndrome 2	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,...	ORPHA:140989
Cardiomyopathy, Familial Restrictive, 1	Restrictive cardiomyopathy, Ventriculomegaly, Sudden cardiac death	OMIM:115210
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus	OMIM:300886
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly	ORPHA:1261
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly	OMIM:618383
Slc35A2-Cdg	Lateral ventricle dilatation, Tetralogy of Fallot, Dandy-Walker malformation	ORPHA:356961
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Peho-Like Syndrome	Pachygyria, Lissencephaly, Polymicrogyria, Ventriculomegaly	OMIM:617507
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Death in childhood	OMIM:619847
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Patent ductus arteriosus, Hydrocephalus	ORPHA:1516
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Hydrocephalus	OMIM:615599
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:617255
Macdermot-Winter Syndrome	Death in infancy, Ventriculomegaly	OMIM:247990
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Cardiomy...	ORPHA:370959
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Dysplastic corpus callosum, Partial agenesis of the corpus call...	ORPHA:171680
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:218350
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migration, Holopr...	ORPHA:93274
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Bradycardia, Increased CSF lactate	ORPHA:565624
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal...	ORPHA:397715
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi...	OMIM:300952
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal CSF pyruvate family amino acid concentration, Agenesis of corpus callosum, Ventriculomeg...	ORPHA:255182
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ventricle, Peripheral pu...	OMIM:619575
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Polymicrogyria, Type II lissencephaly	OMIM:615181
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilation of Vi...	ORPHA:544488
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus	OMIM:613155
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca...	OMIM:619955
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrocephalus, Death in childhood	OMIM:269920
Aicardi Syndrome	Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, Choroid plexus cyst, Gray matt...	OMIM:304050
Noonan Syndrome 14	Aortic regurgitation, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrophic cardiomyopath...	OMIM:619745
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Vascular ring, Mitral regurgitation, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:603387
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Distal Deletion 10Q	Patent ductus arteriosus, Spina bifida occulta, Lateral ventricle dilatation	ORPHA:96148
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma...	OMIM:614424
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Microhydranencephaly	Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:605013
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex...	ORPHA:465
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth...	ORPHA:60040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Lissencephaly, Agenesis of corpus callosum, Agyria, Type II lissencephaly	OMIM:615249
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Umbilical hernia, Hydrocephalus	ORPHA:2181
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly, Vascular dilatation	OMIM:219730
Mosaic Trisomy 1	Coarctation of aorta, Lateral ventricle dilatation, Pulmonary artery atresia, Polymicrogyria, Age...	ORPHA:1692
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria	OMIM:618731
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria, Ventriculomegaly	ORPHA:370980
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Death in childhood	OMIM:618251
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Ventriculomegaly, Telangiectases producing 'marbled' skin	OMIM:206570
Thanatophoric Dysplasia	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd...	OMIM:619895
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Death in adolescence	OMIM:619229
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Death in infancy	OMIM:618886
Walker-Warburg Syndrome	Dandy-Walker malformation, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal mig...	ORPHA:899
Aase-Smith Syndrome I	Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Ventriculomegaly	OMIM:616531
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Leukoencephalopathy With Vanishing White Matter 4	Ventriculomegaly	OMIM:620314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Lissencephaly, Holoprosencephaly, T...	OMIM:253800
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr...	OMIM:619487
Amish Lethal Microcephaly	Death in infancy, Spina bifida, Lissencephaly, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:99742
Weaver Syndrome	Umbilical hernia, Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hydrocephalus, Lissencephaly, Death in childhood, Umbilical hernia, Hyp...	OMIM:612938
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul...	ORPHA:1908
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia	OMIM:619833
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Left superior vena cava draining to coronary sinus, Pulmonary arter...	ORPHA:464738
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventriculomegaly	ORPHA:2515
Congenital Neuronal Ceroid Lipofuscinosis	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Vascular granular osmiophilic material...	ORPHA:168486
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Death in infancy	OMIM:241800
Fetal Gaucher Disease	Intracranial hemorrhage, Death in infancy, Stillbirth, Neonatal death	ORPHA:85212
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Neuronal Intranuclear Inclusion Disease	CSF pleocytosis, Syncope, Increased CSF protein concentration, Ventriculomegaly	OMIM:603472
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Partial agenesis of the ...	OMIM:210710
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly, Death in childhood	OMIM:203740
Bainbridge-Ropers Syndrome	Death in infancy, Lateral ventricle dilatation	OMIM:615485
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia	OMIM:618273
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Baraitser-Winter Syndrome 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:614583
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr...	ORPHA:25
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Type II lissencephaly, Hydrocephalus, Pachygyria, Agenesis of co...	OMIM:613150
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Desmosterolosis	Abnormal cortical gyration, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migr...	ORPHA:35107
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis, Hydrocephalus	ORPHA:163596
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly	OMIM:609757
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus, Pachygyria, Agenesis of corpus callosum, Ventriculome...	ORPHA:452
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Subdural hemorrhage, Cerebral hemorrhage, Death in childhood	OMIM:620278
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Patent ductus arteriosus, Hydrocephalus	ORPHA:171839
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Death in infancy, Abnormal cortical gyration, Patent ductus arteriosus, Hydroc...	OMIM:614576
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly	OMIM:619180
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Halperin-Birk Syndrome	Colpocephaly, Death in childhood, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly...	OMIM:618651
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Increased CSF lactate, Ventriculomegaly, Death in adolescence	OMIM:619059
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lateral ventricle dilatation	ORPHA:2822
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:300215
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aortic valve stenosis, Tetralogy...	OMIM:220210
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ventric...	ORPHA:206559
Hydranencephaly	Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th...	ORPHA:2177
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, Death in infancy	OMIM:616299
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Aortopulmonary collateral arteries	OMIM:617557
Temple Syndrome	Hydrocephalus	ORPHA:254516
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the great arteries...	ORPHA:1926
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventriculomegaly	OMIM:613730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu...	OMIM:618476
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Dextrotransposition of the great art...	OMIM:618619
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventriculomegaly, Periventricular heterotopia	OMIM:618974
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Perisylvian polymicrogyria, Ventriculomegaly	OMIM:606854
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:616538
3C Syndrome	Death in infancy, Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration, Pulmonic st...	ORPHA:7
B4Galt1-Cdg	Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Hydrocephalus, Petechiae	OMIM:617053
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Hydrolethalus	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	ORPHA:2189
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus, Anomalous pulm...	ORPHA:1120
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Joubert Syndrome 9	Encephalocele, Ventriculomegaly	OMIM:612285
Galloway-Mowat Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617731
Joubert Syndrome 30	Gray matter heterotopia, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Pachygyria, Agenesi...	ORPHA:157
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Tricuspid regurgitation	OMIM:263520
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Pachyg...	ORPHA:228308
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Aortic ...	ORPHA:666
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Persistent left superior vena cava, Transposition of the great art...	OMIM:314390
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Bruising susceptibility, Agenesis of corpus callosum, Hydrocephalus	OMIM:612940
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Trisomy 1Q	Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	ORPHA:261344
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Umbilical hernia, Tetralogy of Fallot, A...	OMIM:612582
Oculocerebrocutaneous Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly	OMIM:617051
Arachnoiditis	Hydrocephalus	ORPHA:137817
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Periventricular heterotopia	ORPHA:255138
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Lateral ventricle dilatation	ORPHA:177907
Fanconi Anemia, Complementation Group B	Death in infancy, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Ventriculomegaly	OMIM:300514
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr...	ORPHA:398124
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Gm1-Gangliosidosis, Type Iii	Foam cells, Ventriculomegaly	OMIM:230650
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha...	OMIM:613686
Tubulinopathy-Associated Dysgyria	Dysgyria, Pachygyria, Agyria, Ventriculomegaly	ORPHA:467166
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Hydrocephalus	ORPHA:163966
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi...	ORPHA:536545
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly	OMIM:613151
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Ventriculomegaly	ORPHA:2524
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:617822
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Polymicrogyria, Agenesis o...	OMIM:264480
Meningioma	Hydrocephalus, Syncope, Cerebral hemorrhage	ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Retinal telangiectasia	OMIM:620157
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short umbilical cord	OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy...	OMIM:615287
Temple Syndrome	Hydrocephalus	OMIM:616222
Hypophosphatasia, Infantile	Intracranial hemorrhage, Death in infancy, Stillbirth	OMIM:241500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
Methylcobalamin Deficiency Type Cble	Hypertension, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly	ORPHA:521390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Patent ductus arteriosus, Lateral ventricle dilatation	OMIM:300868
Emanuel Syndrome	Ventriculomegaly, Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis,...	ORPHA:96170
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly	ORPHA:2172
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Patent ductus arteriosus, Tetralogy of Fallot, Lateral ventricle dilata...	OMIM:619869
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Extra-axial cerebrospinal fluid accumulation, Agenesis of corpus callosum, Simplified gyral patte...	OMIM:617669
Menkes Disease	Intracranial hemorrhage, Death in childhood	OMIM:309400
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia	ORPHA:2119
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Pseudo-Torch Syndrome 1	Petechiae, Patent ductus arteriosus, Lissencephaly, Umbilical hernia, Pachygyria, Increased CSF p...	OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H...	OMIM:236670
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid...	ORPHA:42775
Emanuel Syndrome	Ventriculomegaly, Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis,...	OMIM:609029
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus, Anomalous pulmonary venous return, Transposition of the great ar...	ORPHA:244
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros...	ORPHA:2356
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Simplified gyral pattern, Ventriculomegaly	OMIM:615760
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly	OMIM:616260
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he...	ORPHA:247245
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal...	ORPHA:974
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Lissencephaly, Aortic valve stenosis, Pachygyria, Agenesis of corpus ca...	OMIM:243310
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Peripheral pulmonary arter...	OMIM:613001
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Helsmoortel-Van Der Aa Syndrome	Mitral regurgitation, Ventriculomegaly, Heart murmur, Lateral ventricle dilatation	OMIM:615873
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:2318
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Joubert Syndrome 31	Ventriculomegaly	OMIM:617761
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Muenke Syndrome	Hydrocephalus	ORPHA:53271
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Dilated cardiomyopathy, Colpocephaly, Mitral regurgitation, Ventricu...	ORPHA:261250
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Aspergillosis	Intracranial hemorrhage, Stroke, Eosinophilia	ORPHA:1163
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Dysplastic corpus callosum, Patent ductus arteriosus after birth at te...	ORPHA:500150
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Increased CSF lactate, Cervical myelopathy, Death in childhood, Ventriculomegaly	OMIM:617186
Desmosterolosis	Hydrocephalus, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Total anomalous...	OMIM:602398
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Pachygyria, Patent ductus arteriosus, Dilated cardiomyopathy, Hydro...	OMIM:607872
Congenital Sialidosis Type 2	Abnormal EKG, Hydrocephalus, Telangiectasia, Umbilical hernia, Cherry red spot of the macula, Pet...	ORPHA:93400
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure	OMIM:181270
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Increased CSF lactate, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:619051
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Choroid plexus cyst, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1827
Lissencephaly Due To Lis1 Mutation	Ventriculomegaly, Dilation of Virchow-Robin spaces, Anterior predominant thick cortex pachygyria,...	ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 39	Simplified gyral pattern, Sinus bradycardia, Increased CSF lactate, Death in childhood, Pachygyri...	OMIM:618397
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulatio...	OMIM:619179
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Retinal neovascularization	OMIM:619074
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Gracile Bone Dysplasia	Death in infancy, Hydrocephalus	OMIM:602361
Temtamy Syndrome	Aortic regurgitation, Agenesis of corpus callosum, Ventriculomegaly, Aortic aneurysm	OMIM:218340
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension	OMIM:616482
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Lethal Congenital Contracture Syndrome 5	Death in infancy, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Ventriculome...	ORPHA:1855
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria	ORPHA:65285
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Pulmonary artery...	OMIM:620113
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Agenesis of corpus...	OMIM:617260
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Stroke, Ventriculomegaly	ORPHA:395
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph...	ORPHA:3205
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Dilation of Virchow-Robin spaces	OMIM:619951
Endocrine-Cerebroosteodysplasia	Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculome...	OMIM:612651
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Interrupted aorti...	ORPHA:163979
Thanatophoric Dysplasia, Type Ii	Neonatal death, Ventriculomegaly	OMIM:187601
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi...	OMIM:309801
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased CSF lactate, Stroke-like episode, Bradycardia, Pulmonary arterial hypertension, Ventric...	OMIM:619272
Apert Syndrome	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Tetrasomy 5P	Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Curry-Jones Syndrome	Lipomyelomeningocele, Occipital meningocele, Polymicrogyria, Agenesis of corpus callosum, Ventric...	OMIM:601707
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp...	ORPHA:3452
Proteus-Like Syndrome	Venous insufficiency, Hydrocephalus, Communicating hydrocephalus	ORPHA:2969
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage	OMIM:243700
Trisomy 17P	Patent ductus arteriosus, Aortic valve stenosis, Hydrocephalus	ORPHA:261290
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly, Abnormality of neuronal migration	ORPHA:261236
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, Ventriculomegaly	OMIM:616546
Stromme Syndrome	Hydrocephalus, Stillbirth, Agenesis of corpus callosum	OMIM:243605
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Miscarriage	ORPHA:1865
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Acromelic Frontonasal Dysostosis	Encephalocele, Dilation of Virchow-Robin spaces, Choroid plexus cyst, Gray matter heterotopia, Pe...	OMIM:603671
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation, Coarctation of aorta	OMIM:147920
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil morphology, Epi...	ORPHA:906
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Pontocerebellar Hypoplasia, Type 2B	Death in infancy, Simplified gyral pattern, Ventriculomegaly, Death in childhood	OMIM:612389
Congenital Myopathy 22A, Classic	Neonatal death, Tricuspid regurgitation, Bradycardia, Normal pressure hydrocephalus	OMIM:620351
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Axenfeld-Rieger Syndrome, Type 2	Umbilical hernia, Hydrocephalus	OMIM:601499
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:257300
Fg Syndrome Type 1	Hydrocephalus, Coarctation of aorta, Umbilical hernia, Pulmonary arterial hypertension, Ventricul...	ORPHA:93932
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary...	ORPHA:79282
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Tetralogy of Fallot ...	OMIM:620305
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Heart murmur, Macrogyria, Death ...	OMIM:614866
Thoracoabdominal Syndrome	Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries	OMIM:313850
Lowry-Maclean Syndrome	Hydrocephalus, Coarctation of aorta	ORPHA:2409
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep...	OMIM:616914
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly	ORPHA:1335
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet right ventricle, ...	OMIM:301043
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t...	ORPHA:1780
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Increased...	ORPHA:500144
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn...	ORPHA:2306
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:619775
Dextrocardia	Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries	ORPHA:1666
Lateral Meningocele Syndrome	Patent ductus arteriosus, Meningocele, Hydrocephalus, Umbilical hernia, Aortic aneurysm	OMIM:130720
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Lateral ventricle dilatation	OMIM:300896
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration, Portal hypertension	ORPHA:1454
15Q Overgrowth Syndrome	Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag...	ORPHA:314585
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Interrupted aortic arch	ORPHA:250989
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:457284
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Ventriculomegaly	ORPHA:2031
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta	ORPHA:268249
Tarp Syndrome	Neonatal death, Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro...	OMIM:261740
Goldberg-Shprintzen Megacolon Syndrome	Pachygyria, Ventriculomegaly	ORPHA:66629
Neu-Laxova Syndrome 2	Ventriculomegaly, Lissencephaly, Spina bifida	OMIM:616038
Alexander Disease	Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Agenesis of ...	ORPHA:58
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Achondroplasia	Hydrocephalus	ORPHA:15
Monosomy 18Q	Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa...	ORPHA:1600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Patent ductus arteriosus, Hydrocephalus	OMIM:104350
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time, Ventriculomegaly	ORPHA:95428
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Rabin-Pappas Syndrome	Hydrocephalus, Retinal telangiectasia	OMIM:620155
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis, Calcification of the aorta	OMIM:231005
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Polymicrogy...	OMIM:618820
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Hydrocephalus, Umbilical hernia	ORPHA:1555
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Hydrocephalus	OMIM:618590
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Umbilical hernia, Ventriculomegaly	OMIM:618188
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Patent ductus arteriosus, Coronary artery fistula, Gray matter heterotopi...	OMIM:620024
Neu-Laxova Syndrome	Dandy-Walker malformation, Abnormal cortical gyration, Spina bifida, Abnormality of neuronal migr...	ORPHA:2671
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hydrocephalus, Umbilical hernia	OMIM:309900
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Stillbirth, Ventriculomegaly	OMIM:259720
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Hypertension, Gray matter heterotopi...	OMIM:311200
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephaly, Neonatal death	OMIM:269860
Marshall-Smith Syndrome	Patent ductus arteriosus, Hydrocephalus, Macrogyria, Premature ventricular contraction, Hypertens...	OMIM:602535
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju...	ORPHA:464329
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Hurler Syndrome	Death in infancy, Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension	ORPHA:93473
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Polymicrogyria, Agyria, Ventriculomegaly	ORPHA:370997
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Ventriculomegaly	OMIM:613735
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou...	ORPHA:109
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Bruising susceptibility, Hydrocephalus	OMIM:618162
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Umbilical hernia, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:305450
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Umbilical hernia, C...	OMIM:253200
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the cor...	OMIM:619512
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Hurler Syndrome	Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Umbilical hernia	OMIM:607014
Roifman-Chitayat Syndrome	Umbilical hernia, Ventriculomegaly	OMIM:613328
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Patent ductus arteriosus, Left-to-right shunt, Ventriculomegaly	ORPHA:363444
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus	ORPHA:220295
Achondroplasia	Death in infancy, Hydrocephalus	OMIM:100800
Holoprosencephaly	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Branchial ano...	ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Increased CSF lactate, Ventriculomegaly, Death in childhood	OMIM:614946
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Pulmonic stenosis, Agenesis of corpus callos...	ORPHA:314679
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Apert Syndrome	Hydrocephalus, Overriding aorta, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Ventriculomegaly	ORPHA:96181
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpocephaly, Bilateral ...	OMIM:618460
Choreoacanthocytosis	Lateral ventricle dilatation, Dilated cardiomyopathy	ORPHA:2388
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ventriculomegaly	OMIM:617563
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Patent ductu...	OMIM:249000
Gillespie Syndrome	Truncus arteriosus, Ventriculomegaly	OMIM:206700
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Ventriculomegaly, Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, ...	OMIM:618343
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Hydrocephalus, Umbilical hernia	OMIM:253220
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Patent ductus arteriosus, Choroid plexus cyst, Stillbirth, Lissen...	OMIM:256520
H Syndrome	Varicose veins, Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia	ORPHA:168569
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Myelomeningocele, Double ...	OMIM:306955
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Simplified gyral pattern, Aortic valve stenosis, Ventric...	ORPHA:96121
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Telangiectasia of the skin	OMIM:616007
Raine Syndrome	Neonatal death, Death in infancy, Hydrocephalus	OMIM:259775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Simplified gyral pattern, Lobar holoprosencephaly, Lissencephaly, Pa...	ORPHA:468631
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Hydroce...	ORPHA:505248
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy, Hydrocephalus	ORPHA:579
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Bruising susceptibility, Agenesis of corpus callosum, Hydrocephalus	OMIM:227646
Monosomy 9Q22.3	Umbilical hernia, Hydrocephalus, Ventriculomegaly	ORPHA:77301
Knobloch Syndrome	Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus	ORPHA:1571
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary embolism, Raynaud...	ORPHA:3260
Holoprosencephaly 9	Hydrocephalus, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Holoprosencep...	OMIM:610829
Coccidioidomycosis	Pericarditis, Eosinophilia, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocyto...	ORPHA:228123
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Trisomy 8P	Dandy-Walker malformation, Hydrocephalus, Heart murmur, Tetralogy of Fallot, Agenesis of corpus c...	ORPHA:264450
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Smith-Lemli-Opitz Syndrome	Death in infancy, Periventricular heterotopia, Patent ductus arteriosus, Hydrocephalus, Partial a...	OMIM:270400
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Seckel Syndrome 9	Pulmonary artery hypoplasia, Simplified gyral pattern, Ventriculomegaly	OMIM:616777
Cardiofaciocutaneous Syndrome 1	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	OMIM:115150
Shprintzen-Goldberg Craniosynostosis Syndrome	Umbilical hernia, Hydrocephalus, Aortic aneurysm	OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic root aneurysm, ...	ORPHA:536467
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Loeys-Dietz Syndrome 1	Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,...	OMIM:609192
Mohr Syndrome	Hydrocephalus	OMIM:252100
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu...	OMIM:236680
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis	OMIM:162200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Umbilical hernia, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Fumarase Deficiency	Choroid plexus cyst, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:606812
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Spina bifida occulta, Hydrocephalus, Partial agenesis of the corpus cal...	OMIM:300373
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:1340
Aymé-Gripp Syndrome	Patent ductus arteriosus, Hydrocephalus, Pericarditis, Ventriculomegaly	ORPHA:1272
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonary artery sling, Periventricular heterotopia, Coarctation of aorta, Lateral ventricle dila...	ORPHA:261537
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Hydrocephalus	OMIM:245600
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte...	OMIM:610168
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pulmonary artery sling, Periventricular heterotopia, Patent ductus arteriosus, Hyphema, Coarctati...	ORPHA:261552
Adams-Oliver Syndrome 1	Encephalocele, Pachygyria, Pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Pulmonary ...	OMIM:100300
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Tricuspid regurgitation, Ventriculomegaly, Increased CSF lactate	OMIM:620306
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary stenosis, Coarctat...	OMIM:618164
Craniopharyngioma	Hydrocephalus, Cerebral ischemia, Myocardial infarction	ORPHA:54595
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Umbilical hernia, Mitral regurgitation, Ventriculomegaly	ORPHA:2462
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Toriello-Carey Syndrome	Ventriculomegaly, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Coarctation ...	ORPHA:3338
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Tetralogy of Fallot, Polymicrogyria	OMIM:154400
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Holoprosencephaly 3	Holoprosencephaly, Ventriculomegaly	OMIM:142945
Witteveen-Kolk Syndrome	Branchial fistula, Dysplastic corpus callosum, Intracranial hemorrhage, Bilateral polymicrogyria,...	OMIM:613406
Fontaine Progeroid Syndrome	Death in infancy, Prominent superficial veins, Tricuspid regurgitation, Periventricular heterotop...	OMIM:612289
Jacobsen Syndrome	Death in infancy, Spina bifida, Coarctation of aorta, Aortic valve stenosis, Pachygyria, Agenesis...	ORPHA:2308
Gaucher Disease	Abnormal bleeding, Death in infancy, Hydrocephalus, Pulmonary arterial hypertension, Gingival ble...	ORPHA:355
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Spina bifida, Retinal arteriolar tortuosity, Patent ductus arteriosu...	ORPHA:567
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Mucopolysaccharidosis Type 3	Hydrocephalus, Atrioventricular block, Reduced left ventricular ejection fraction, Umbilical hern...	ORPHA:581
Cockayne Syndrome Type 3	Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ...	ORPHA:90324
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:253280
Fanconi Anemia	Spina bifida, Patent ductus arteriosus, Hydrocephalus, Abnormal carotid artery morphology, Abnorm...	ORPHA:84
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Varicose veins, Pulm...	ORPHA:2072
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly, Coarctation of aorta	ORPHA:2322
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2461
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis	ORPHA:538
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callo...	OMIM:151050
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Meester-Loeys Syndrome	Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic...	OMIM:300989
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi...	ORPHA:139417
Alobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220386
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp...	ORPHA:2396
Microphthalmia With Limb Anomalies	Venous insufficiency, Death in infancy, Hydrocephalus	ORPHA:1106
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Bruising susceptibility, Hydrocephalus	ORPHA:667
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Hajdu-Cheney Syndrome	Umbilical hernia, Patent ductus arteriosus, Hydrocephalus	OMIM:102500
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Yunis-Varon Syndrome	Pachygyria, Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery ...	ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitr...	ORPHA:2556
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Patent ductus arteriosus, Increased CSF lactate, Bradycardia, Neonatal death, V...	OMIM:617248
Hajdu-Cheney Syndrome	Mitral stenosis, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Aortic valve stenosis	ORPHA:955
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocephalus, Umbilical ...	ORPHA:3310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypertension, Hydrocephalus, Stillbirth	ORPHA:95699
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Patent ductus arteriosus, Tricuspid regurgitation, Hydrocephalus	ORPHA:261337
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous p...	OMIM:265380
Cryptococcosis	Hydrocephalus	ORPHA:1546
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Dilatation of the ce...	OMIM:619475
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta	OMIM:208150
Knobloch Syndrome 1	Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P...	OMIM:267750
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Costello Syndrome	Hydrocephalus, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymphangiectasis, Vent...	OMIM:218040
Trichorhinophalangeal Syndrome, Type Ii	Internal carotid artery dissection, Partial anomalous pulmonary venous return, Myocardial infarct...	OMIM:150230
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L...	OMIM:619472
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Communicating hydrocephalus	ORPHA:309282
Cockayne Syndrome A	Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left superior vena cava, Vent...	OMIM:216400
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus	OMIM:219000
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Hypertension, Pulmonary lymphangiomyomatosis, Subependymal nodule...	ORPHA:805
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Epistaxis, Patent ductus arteriosus, Cephalohematoma, Mild fetal ven...	OMIM:619841
Cockayne Syndrome B	Hypertension, Arrhythmia, Normal pressure hydrocephalus, Death in childhood	OMIM:133540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ...	ORPHA:353277
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymicrogyria	OMIM:218600
Focal Dermal Hypoplasia	Hydrocephalus, Myelomeningocele, Telangiectasia, Umbilical hernia, Spina bifida occulta, Agenesis...	OMIM:305600
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal...	ORPHA:580
Wolf-Hirschhorn Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:194190
Neurofibromatosis Type 1	Hypertension, Hydrocephalus, Arterial stenosis	ORPHA:636
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Peters Plus Syndrome	Patent ductus arteriosus, Hydrocephalus, Abnormal pulmonary vein morphology, Pulmonic stenosis, U...	ORPHA:709
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Dilatation of the sinus of Valsalva	OMIM:304120
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Peters-Plus Syndrome	Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Umbilical hernia, Agenesis of corpus ...	OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Mitral regurgitation, Hydrocephalus, Pulmonic stenosis	ORPHA:363700
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Simpson-Golabi-Behmel Syndrome, Type 1	Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Total anomalous pulmonary venous return,...	OMIM:312870
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hydrocephalus, Pulmonic stenosis, Polymicrogyria, Agenesis of corpus callosum	ORPHA:3455
Craniofacial Microsomia 1	Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor...	OMIM:164210
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Townes-Brocks Syndrome 1	Umbilical hernia, Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly	OMIM:107480
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Noncommunicating hydrocephalus, Heart murmur	OMIM:619325
Roberts-Sc Phocomelia Syndrome	Patent ductus arteriosus, Frontal encephalocele, Stillbirth, Hydrocephalus	OMIM:268300
Pmm2-Cdg	Pericarditis, Angina pectoris, Intracranial hemorrhage, Hypertrophic cardiomyopathy, Dandy-Walker...	ORPHA:79318

Histopathology

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

There is no histopathology data for Llgl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Llgl1.

No publications found that use IMPC mice or data for Llgl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Llgl1^{tm428(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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