Gene: Kif6 MGI:1098238

Registered for phenotyping at IMPC

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

Gene Summary

Name:

kinesin family member 6

Synonyms:

D130004B10Rik, D130084M03Rik

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 Kif6 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 Kif6 (0 diseases)
Human diseases predicted to be associated with Kif6 (630 diseases)

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

The table below shows human diseases predicted to be associated to Kif6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Megalencephaly, Autosomal Dominant	Megalencephaly, Hydrocephalus	OMIM:155350
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus	OMIM:615938
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Polyrrhinia	Dilation of lateral ventricles, Abnormal third ventricle morphology	ORPHA:141091
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive	Perisylvian polymicrogyria, Enlarged sylvian cistern	OMIM:615752
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep...	OMIM:615937
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Alexander Disease	Increased CSF protein, Hydrocephalus	OMIM:203450
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus	OMIM:617244
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Normal pressure hydrocephalus	OMIM:611808
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles	ORPHA:101071
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles	ORPHA:363654
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus...	OMIM:600348
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ...	OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus	OMIM:166990
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Simplified gyral pattern, ...	ORPHA:329228
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Dandy-Walker Syndrome	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Hydrocephalus, Congenital, 3, With Brain Anomalies	Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617967
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep...	OMIM:618709
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles	OMIM:300864
Polymicrogyria Due To Tubb2B Mutation	Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu...	ORPHA:300573
Pineocytoma	Increased CSF protein, Hydrocephalus	ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph...	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve...	ORPHA:306669
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	OMIM:614830
Brain Small Vessel Disease 2	Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria, Schizencephaly	OMIM:614483
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Dilation of lateral ventricles	OMIM:616816
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Dilation of lateral ventricles	OMIM:619278
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Primary microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria	ORPHA:171703
Internal Carotid Absence	Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia	ORPHA:981
Aneurysm, Intracranial Berry, 12	Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm	OMIM:618734
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles	OMIM:602200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613154
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ...	OMIM:618736
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral calcification	OMIM:116860
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles	ORPHA:77299
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ...	ORPHA:79243
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles	OMIM:618890
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,...	ORPHA:2185
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura...	ORPHA:284388
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Masa Syndrome	Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:303350
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum	OMIM:617296
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Recurrent subcortical infarcts, Ataxia, Stroke, Abnormal CSF protein lev...	ORPHA:140989
Mental Retardation, Autosomal Dominant 48	Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati...	OMIM:617751
Brain Small Vessel Disease 3	Cerebral hemorrhage, Cerebral atrophy, Cerebral calcification, Leukoencephalopathy	OMIM:618360
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:304100
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Gait disturbance, Lethargy, Hydrocephalus	ORPHA:26
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification	ORPHA:1931
Developmental And Epileptic Encephalopathy 36	Microcephaly, Cerebral atrophy, Hydrocephalus	OMIM:300884
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Abeta Amyloidosis, Iowa Type	Gait disturbance, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke	ORPHA:324708
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Cerebral hemorrhage, Stroke	OMIM:105150
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles	OMIM:600721
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal cerebral white...	ORPHA:136
Congenital Factor V Deficiency	Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes...	ORPHA:326
Autosomal Dominant Non-Syndromic Intellectual Disability	Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb...	ORPHA:178469
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Cerebral Cavernous Malformations 2	Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke	OMIM:603284
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification	ORPHA:73256
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp...	ORPHA:208447
16P13.2 Microdeletion Syndrome	Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricul...	ORPHA:500055
Abetal34V Amyloidosis	Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke	ORPHA:324703
Familial Cervical Artery Dissection	Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c...	ORPHA:36382
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:324416
Methanol Poisoning	Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int...	ORPHA:31825
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Holoprosencephaly 5	Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly...	OMIM:609637
Combined Oxidative Phosphorylation Defect Type 39	Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb...	ORPHA:565624
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:352682
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis...	OMIM:273800
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Lissencephaly 5	Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w...	OMIM:615191
+173470 integrin, beta-3	Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno...	OMIM:173470
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl...	ORPHA:284417
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum	OMIM:307000
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Craniotelencephalic Dysplasia	Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,...	ORPHA:1528
Congenital Factor Ii Deficiency	Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he...	ORPHA:325
Pontocerebellar Hypoplasia, Type 13	Inability to walk, Gait ataxia, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Micro...	OMIM:618606
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Microcephaly, Hydrocephalus	ORPHA:398189
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Dilation of lateral ventricles	ORPHA:85290
Pseudo-Torch Syndrome 2	Lethargy, Ventriculomegaly, Polymicrogyria, Cerebral hemorrhage, Petechiae, Cerebral calcificatio...	OMIM:617397
Glutaryl-Coa Dehydrogenase Deficiency	Open operculum, Dystonia, Abnormal caudate nucleus morphology, Pallidal degeneration, Ventriculom...	ORPHA:25
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand...	OMIM:225790
Cerebral Cavernous Malformations 3	Abnormal cerebral morphology, Cerebral hemorrhage	OMIM:603285
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp...	ORPHA:2182
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum...	ORPHA:544488
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensit...	ORPHA:488627
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Menin...	ORPHA:397715
Paganini-Miozzo Syndrome	Dilation of lateral ventricles	OMIM:301025
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus	ORPHA:945
Linear Skin Defects With Multiple Congenital Anomalies 3	Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes...	OMIM:300952
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, Inability to walk, Dystonia, Type II lissencephaly, Normal pr...	ORPHA:300570
Pettigrew Syndrome	Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-...	OMIM:304340
Glutamine Deficiency, Congenital	Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles	OMIM:610015
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormality of the cerebrospinal fluid, Abnormal cerebral white matter morphology, Cerebral atrop...	ORPHA:314404
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B...	OMIM:613225
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ...	ORPHA:231160
Moderate Hemophilia A	Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag...	ORPHA:169805
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, Cerebral ...	ORPHA:572798
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Increased CSF lactate, ST segment depression, Hypopituitarism, Hypertension, Abn...	ORPHA:90065
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the...	ORPHA:2148
Cach Syndrome	T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Dysmetria, Microcephaly, ...	ORPHA:135
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse...	OMIM:617542
Congenital Factor Vii Deficiency	Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem...	ORPHA:327
Fried Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:85335
Severe Hemophilia A	Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr...	ORPHA:169802
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept...	ORPHA:3002
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus	ORPHA:397951
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcification, Progres...	OMIM:610333
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles	OMIM:607485
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Dilation of lateral ventricles	ORPHA:420179
Melanosis, Neurocutaneous	Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma	OMIM:249400
Congenital Factor Xiii Deficiency	Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,...	ORPHA:331
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation	ORPHA:3078
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Colpocephaly	ORPHA:401815
Papillary Tumor Of The Pineal Region	Increased CSF protein, Hydrocephalus	ORPHA:251915
Basel-Vanagaite-Smirin-Yosef Syndrome	Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr...	ORPHA:464738
Slc35A2-Cdg	Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ...	ORPHA:356961
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Gait imbalance, Hypoplasia of the corpus callosum, Gait ataxia, Abnormal lateral ventricle morpho...	ORPHA:488635
Abeta Amyloidosis, Italian Type	Cerebral hemorrhage, Stroke	ORPHA:324713
Factor Vii Deficiency	Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia	OMIM:227500
Cerebral Amyloid Angiopathy, App-Related	Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra...	OMIM:605714
Fetal And Neonatal Alloimmune Thrombocytopenia	Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage...	ORPHA:853
Cerebral Visual Impairment	Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, Abnormal cer...	ORPHA:447788
Aicardi Syndrome	Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Polymicrogyria, Dilated t...	OMIM:304050
Combined Deficiency Of Factor V And Factor Viii	Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi...	ORPHA:35909
Hemophilia A	Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o...	ORPHA:98878
Huntington Disease-Like 1	Gait ataxia, Abnormal posturing, Ventriculomegaly, Gait disturbance, Bradykinesia, Cerebral corti...	ORPHA:157941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, A...	OMIM:613153
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthosta...	ORPHA:2822
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Cerebral hemorrhage, Purpura	OMIM:614514
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Pontocerebellar Hypoplasia, Type 15	Simplified gyral pattern, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the cor...	OMIM:619302
1Q21.1 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:250994
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus	OMIM:614195
Snakebite Envenomation	Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis...	ORPHA:449285
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Myelomeningocele, Hydrocephalus, Spina bifida occulta	OMIM:183802
Hemophilia B	Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo...	ORPHA:98879
Central Precocious Puberty	Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus	ORPHA:759
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia	ORPHA:1532
Congenital Factor X Deficiency	Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi...	ORPHA:328
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Congenital Alpha2-Antiplasmin Deficiency	Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H...	ORPHA:79
Factor X Deficiency	Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p...	OMIM:227600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus	OMIM:602501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Polymicrogyria, Megalencephaly, Hydrocephalus	ORPHA:83473
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Azoospermia, Cerebral hemorrhage, Stroke-like episode, Abnormal cerebral vas...	OMIM:300845
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Moyamoya phenomenon, Ischemic stroke, Azoospermia, Hypertension, Cerebral hemorrhage, Dilated car...	ORPHA:280679
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly	OMIM:615219
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l...	ORPHA:293725
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus	ORPHA:261102
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus, Dandy-Walk...	OMIM:220219
Neurocutaneous Melanocytosis	Meningocele, Ventriculomegaly, Intracranial hemorrhage, Dandy-Walker malformation	ORPHA:2481
Achondroplasia	Megalencephaly, Hydrocephalus	OMIM:100800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl...	OMIM:615287
Dandy-Walker Malformation With Postaxial Polydactyly	Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Aortic va...	OMIM:220220
Glutaric Acidemia I	Dystonia, Dilation of lateral ventricles	OMIM:231670
Dengue Fever	Lethargy, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Br...	ORPHA:99828
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Dilation of lateral ventricles	OMIM:618914
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus, Cerebral calcification	ORPHA:2770
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he...	ORPHA:465
Hydrocephalus With Associated Malformations	Hydrocephalus	OMIM:236640
Sneddon Syndrome	Cerebral hemorrhage, Ischemic stroke, Hypertension	OMIM:182410
Congenital Toxoplasmosis	Microcephaly, Ventriculomegaly, Hydrocephalus, Cerebral calcification	ORPHA:858
Congenital Muscular Dystrophy, Fukuyama Type	Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Gait disturba...	ORPHA:272
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Gait disturba...	ORPHA:216866
Distal Monosomy 10Q	Cavum septum pellucidum, Ataxia, Unsteady gait, Spina bifida occulta, Microcephaly, Attention def...	ORPHA:96148
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo...	ORPHA:457279
Menkes Disease	Intracranial hemorrhage, Microcephaly	OMIM:309400
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Subarachnoid hemorrhage, Cerebral vasculitis	OMIM:243700
Acquired Von Willebrand Syndrome	Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr...	ORPHA:99147
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:618577
Cog5-Cdg	Truncal ataxia, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atrophy, Dilation o...	ORPHA:263487
Familial Afibrinogenemia	Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98880
Mental Retardation, Autosomal Dominant 35	Ventriculomegaly, Hydrocephalus	OMIM:616355
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Medulloblastoma	Lethargy, Cerebellar hemorrhage, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associa...	ORPHA:616
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Abnormal cerebral white matter morphology, Hydrocephalus	OMIM:600991
Hydranencephaly	Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Lethargy, Abnormal corpus striatu...	ORPHA:2177
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex morphology	ORPHA:163961
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Craniofacial Dyssynostosis	Hypoplasia of the corpus callosum, Hydrocephalus	ORPHA:1516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Polymicrogyria, Hydrocephalus, Leukoencephalopathy	OMIM:615181
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:617866
Dystonia 1, Torsion, Autosomal Dominant	Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis	OMIM:128100
Abeta Amyloidosis, Dutch Type	Cerebral hemorrhage, Cerebral calcification, Cerebral amyloid angiopathy, Stroke	ORPHA:100006
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage	OMIM:243500
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus	ORPHA:380
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Cerebral calcification	ORPHA:624
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:218350
Pallister-Hall-Like Syndrome	Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism	OMIM:241800
Mohr-Tranebjaerg Syndrome	Dystonia, Abnormal posturing	OMIM:304700
Kohlschutter-Tonz Syndrome-Like	Inability to walk, Ventriculomegaly, Ataxia, Secondary microcephaly, Microcephaly, Dilation of la...	OMIM:619229
Orofaciodigital Syndrome Type 14	Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Microcephal...	ORPHA:434179
Fibronectin Glomerulopathy	Cerebral hemorrhage, Hypertension	ORPHA:84090
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Hyperactivity	OMIM:300960
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Ventriculomegaly, Aqueductal stenosis	OMIM:600907
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Gait disturbance, Hydrocephalus, Aortic regurgitation	ORPHA:2181
Vascular Hyalinosis	Subarachnoid hemorrhage, Cerebral calcification, Hematochezia	OMIM:277175
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Mental Retardation, Autosomal Dominant 36	Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus	OMIM:616362
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Cerebral atrophy, Lethargy, Abnormal posturing	OMIM:614857
Wyburn-Mason Syndrome	Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G...	ORPHA:53719
Krabbe Disease	Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus	OMIM:245200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Abnormal globus pallidus morphology, Lethargy, Cerebellar hemorrhage, Cardiomyopathy	OMIM:251000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb...	OMIM:618476
Coach Syndrome 2	Agenesis of corpus callosum, Hydrocephalus	OMIM:619111
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	OMIM:273730
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Pituitary Deficiency Due To Rathke Cleft Cysts	Panhypopituitarism, Hydrocephalus, Anterior hypopituitarism, Intracranial hemorrhage, Enlarged pi...	ORPHA:91350
Superficial Siderosis	Persistent bleeding after trauma, Abnormal bleeding, Dysdiadochokinesis, Internal hemorrhage, Enl...	ORPHA:247245
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Polymicrogyria, Colpocephaly	OMIM:618731
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	OMIM:276950
Acquired Purpura Fulminans	Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time	ORPHA:49566
Mosaic Trisomy 1	Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles	ORPHA:1692
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi...	ORPHA:464321
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:109120
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Polycythemia Vera	Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage	OMIM:263300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Basal ganglia cysts, Arrhythmia, Lethargy, Ventriculomegaly, ...	OMIM:608836
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he...	ORPHA:774
Acys Amyloidosis	Cerebral hemorrhage, Cerebral amyloid angiopathy, Stroke	ORPHA:100008
Cardiofaciocutaneous Syndrome 4	Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology	OMIM:615280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo...	OMIM:603387
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus	OMIM:613603
Propionic Acidemia	Dystonia, Lethargy, Cerebral atrophy, Cerebellar hemorrhage, Cardiomyopathy	OMIM:606054
Non-Functioning Paraganglioma	Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin...	ORPHA:94080
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Dilation of lateral ventricles	OMIM:612301
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Epistaxis, Hypertension	ORPHA:404
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence	ORPHA:99947
Arachnoiditis	Hydrocephalus	ORPHA:137817
Choreoacanthocytosis	Frontal cortical atrophy, Hypoplastic hippocampus, Blepharospasm, Head titubation, Bradykinesia, ...	ORPHA:2388
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati...	OMIM:616538
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Epistaxis, Hypertension	ORPHA:403
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Hydrocephalus, Dandy-W...	OMIM:611134
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:612940
Temple Syndrome	Hydrocephalus	OMIM:616222
Familial Hyperaldosteronism Type Iii	Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension	ORPHA:251274
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul...	ORPHA:370959
Mental Retardation, Buenos Aires Type	Microcephaly, Spastic gait, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:249630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Agenesis of corpus callosum, Type II lissencephaly, Agyria, Microcephaly, Progressive microcephal...	OMIM:615249
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Hypertension	OMIM:133100
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Functioning Gonadotropic Adenoma	Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Anterior hypopituita...	ORPHA:91348
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus	OMIM:207950
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Weaver Syndrome	Dilation of lateral ventricles, Absent septum pellucidum	OMIM:277590
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Thanatophoric Dysplasia Type 2	Holoprosencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:93274
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral w...	ORPHA:395
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimuation test	ORPHA:254516
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Williams-Beuren Region Duplication Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Hydrocephalus, Attention d...	OMIM:609757
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Hydrocephalus, Congestive heart failure	OMIM:269920
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Erythrocytosis, Familial, 2	Hypotension, Cerebral hemorrhage, Stroke	OMIM:263400
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest...	OMIM:171420
Autoerythrocyte Sensitization Syndrome	Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Epi...	ORPHA:324636
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Dilated cardiomyopathy, Subdural hemorrhage, Cerebral atrophy, Ataxia, Stroke, Pulmonar...	ORPHA:79282
Mirage Syndrome	Intracranial hemorrhage, Petechiae, Hydrocephalus	OMIM:617053
Meckel Syndrome, Type 3	Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Attention deficit hyperac...	ORPHA:177907
Arnold-Chiari Malformation Type Ii	Agenesis of corpus callosum, Difficulty walking, Ventriculomegaly, Aqueductal stenosis, Ataxia, M...	ORPHA:1136
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormality of the septum pellucidum, Cerebral atrophy, Hydrocephalus	ORPHA:171839
Pseudo-Torch Syndrome 3	Abnormal cerebral white matter morphology, Cerebral hemorrhage, Cerebral calcification, Hypertension	OMIM:618886
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus	ORPHA:2655
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy	ORPHA:2701
Sporadic Infantile Bilateral Striatal Necrosis	Dystonia, Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Titubation	ORPHA:225147
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men...	ORPHA:1908
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Joubert Syndrome 14	Hypertension, Ataxia, Hydrocephalus, Dandy-Walker malformation	OMIM:614424
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Arrhythmia, Ventriculomegaly, Telangiectasia of the skin, Polymicrogyria, Cerebral ischemia, Hydr...	ORPHA:60040
Neonatal Lupus Erythematosus	Abnormal bleeding, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal cer...	ORPHA:398124
Methylcobalamin Deficiency Type Cble	Lethargy, Ventriculomegaly, Abnormal cerebral white matter morphology, Hypertension, Microcephaly...	ORPHA:2169
Acyl-Coa Dehydrogenase 9 Deficiency	Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Ce...	ORPHA:99901
Multiple Sulfatase Deficiency	Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Increased C...	OMIM:272200
Tenorio Syndrome	Cavum septum pellucidum, Ventriculomegaly, Gait disturbance, Cerebral cortical atrophy, Hydroceph...	OMIM:616260
Hemorrhagic Fever-Renal Syndrome	Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp...	ORPHA:340
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave	ORPHA:231625
Walker-Warburg Syndrome	Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr...	ORPHA:899
Hydrolethalus	Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Fetal Gaucher Disease	Intracranial hemorrhage	ORPHA:85212
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Aspergillosis	Intracranial hemorrhage, Stroke	ORPHA:1163
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Sturge-Weber Syndrome	Conjunctival telangiectasia, Stroke, Cerebral cortical atrophy, Pulmonary embolism, Cerebral calc...	ORPHA:3205
Hypophosphatasia, Infantile	Intracranial hemorrhage	OMIM:241500
1Q44 Microdeletion Syndrome	Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	ORPHA:238769
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Calcification of falx cerebri, Cerebral hemorrhage,...	OMIM:177850
Fanconi Anemia, Complementation Group I	Colpocephaly, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Decreased resp...	OMIM:609053
Rhombencephalosynapsis	Septo-optic dysplasia, Ventriculomegaly, Fusion of the left and right thalami, Hydrocephalus	ORPHA:59315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Dilation of lateral ventricles	OMIM:263520
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Decreased res...	OMIM:220210
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Megalencephaly, Congestive heart failure, Pulmonary arterial h...	OMIM:616482
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
47,Xyy Syndrome	Increased circulating gonadotropin level, Azoospermia, Oligospermia, Hyperactivity, Hydrocephalus...	ORPHA:8
Oculocerebrocutaneous Syndrome	Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy...	ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicro...	OMIM:614643
Gorlin Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:377
Meckel Syndrome, Type 6	Hydrocephalus, Anencephaly	OMIM:612284
Meningioma	Focal T2 hypointense thalamic lesion, Difficulty walking, Enlarged pituitary gland, Hypothalamic ...	ORPHA:2495
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation, Agenesis of corpus callosum, Att...	ORPHA:459061
Sandifer Syndrome	Torticollis, Abnormal posturing, Hematemesis	ORPHA:71272
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma...	OMIM:610655
Congenital Disorder Of Glycosylation, Type Iil	Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal cortical gyration...	OMIM:614576
Bresek Syndrome	Microcephaly, Hydrocephalus	ORPHA:85284
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Dysgenesis of the hippocampus, Ataxia, Agenesis of corpus callosu...	OMIM:619320
Diabetic Embryopathy	Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spinal dysraphism, Hydrocephalus	ORPHA:1926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus	ORPHA:77298
Crouzon Disease	Hydrocephalus	ORPHA:207
Peho Syndrome	Porencephalic cyst, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Hydrocephalus	ORPHA:2836
Extracranial Carotid Artery Aneurysm	Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis	ORPHA:494424
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Microcephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Sporadic Pheochromocytoma/Secreting Paraganglioma	Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin...	ORPHA:276621
Encephalocraniocutaneous Lipomatosis	Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cortical dysp...	OMIM:613001
Spondyloenchondrodysplasia	Abnormal periventricular white matter morphology, Ventriculomegaly, Hypertension, Cerebral calcif...	ORPHA:1855
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Ischemic stroke, Nail bed telangiectasia, Lip telangiectasia, Cerebr...	OMIM:600376
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Ischemic stroke, Hypoplasia of the corpus callosum, Abnormal cerebr...	ORPHA:500150
Myopathy, Centronuclear, X-Linked	Hydrocephalus	OMIM:310400
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies	Semilobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618651
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Microcephaly, Heart murmur, Hydrocephalus	ORPHA:163979
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Wiskott-Aldrich Syndrome	Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat...	ORPHA:906
Triploidy	Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus	ORPHA:3376
Congenital Sialidosis Type 2	Hydrocephalus, Ataxia, Petechiae, Dysmetria, Telangiectasia, Abnormal EKG	ORPHA:93400
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Joubert Syndrome With Renal Defect	Hydrocephalus, Gait disturbance, Ataxia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Hydrocephalus, Cerebral arteriovenous malformation, Vein of Galen aneurysmal m...	ORPHA:137667
Familial Lambdoid Synostosis	Hydrocephalus	ORPHA:3267
Cocaine Intoxication	Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo...	ORPHA:90068
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri...	ORPHA:91387
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Bruising susceptib...	ORPHA:464329
Emanuel Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal cerebral white matter m...	ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iim	Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Dilation of lateral ventricles	OMIM:300896
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Craniopharyngioma	Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita...	ORPHA:54595
Joubert Syndrome	Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Ataxia, Polymicrogyria, Hydrocephalus	ORPHA:475
Alkuraya-Kucinskas Syndrome	Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Lissencephaly	OMIM:617822
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Cerebral atrophy, Hydrocephalus	OMIM:614886
Whipple Disease	Pericarditis, Gastrointestinal hemorrhage, Hypotension, Ataxia, Myocardial infarction, Myocarditi...	ORPHA:3452
Vici Syndrome	Abnormal posturing, Congestive heart failure, Schizencephaly, Dilated cardiomyopathy, Microcephal...	OMIM:242840
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Trisomy 1Q	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	ORPHA:261344
Desmosterolosis	Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr...	ORPHA:35107
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer...	OMIM:187300
Holoprosencephaly 7	Semilobar holoprosencephaly, Panhypopituitarism, Agenesis of corpus callosum, Fusion of the left ...	OMIM:610828
Histiocytoid Cardiomyopathy	Lethargy, Agenesis of corpus callosum, Hydrocephalus, Wolff-Parkinson-White syndrome, Atrial flut...	ORPHA:137675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Arrhythmia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricu...	ORPHA:228308
Classic Homocystinuria	Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ...	ORPHA:394
Griscelli Syndrome	Hydrocephalus, Ataxia	ORPHA:381
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Dilated cardiomyopathy, Mitral regurgitation...	ORPHA:261250
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Porencephalic cyst, Ischemic stroke, Cerebral hemorrhage, Cortical dysplasia, Focal cortical dysp...	OMIM:175780
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Microcephaly, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Lhermitte-Duclos Disease	Polymicrogyria, Hydrocephalus	ORPHA:65285
3C Syndrome	Ventriculomegaly, Pulmonic stenosis, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, H...	OMIM:613150
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Difficulty walking, Subdural hemorrhage, Stroke, Subcortical white...	ORPHA:90324
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus	OMIM:300514
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum	OMIM:309801
Joubert Syndrome With Ocular Defect	Hydrocephalus, Gait disturbance, Ataxia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Fg Syndrome Type 1	Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitary gland, Pulmonary art...	ORPHA:93932
Joubert Syndrome 2	Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Hydrocephalus, Ataxia	OMIM:608091
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon, Hydrocephalus, Ataxia	ORPHA:2720
Adams-Oliver Syndrome	Porencephalic cyst, Gastrointestinal hemorrhage, Periventricular leukomalacia, Pulmonary arterial...	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Pulmonic steno...	OMIM:253800
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:1860
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Intraventricular hemorrhage	ORPHA:79284
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Gait disturbance, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	ORPHA:1812
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Pheochromocytoma	Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest...	OMIM:171300
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomegaly, Hydrocephalus	OMIM:612651
Hereditary Pheochromocytoma-Paraganglioma	Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin...	ORPHA:29072
Genitopalatocardiac Syndrome	Microcephaly, Hydrocephalus	ORPHA:2075
Joubert Syndrome With Oculorenal Defect	Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Ataxia	ORPHA:2318
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Iniencephaly	Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Lissencephaly, Myelomeningocele,...	ORPHA:63259
Osteopetrosis, Autosomal Recessive 5	Microcephaly, Cerebral atrophy, Hydrocephalus	OMIM:259720
Carnitine Palmitoyltransferase Ii Deficiency	Arrhythmia, Pachygyria, Agenesis of corpus callosum, Abnormality of the basal ganglia, Polymicrog...	ORPHA:157
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Adrenocorticotropic hormone excess, Pituitary carcinoma, I...	ORPHA:199244
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Bannayan-Riley-Ruvalcaba Syndrome	Intracranial hemorrhage, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris	ORPHA:109
Chromosome 1P36 Deletion Syndrome	Pachygyria, Agenesis of corpus callosum, Noncompaction cardiomyopathy, Hypoplasia of the corpus c...	OMIM:607872
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Abnormal cerebral white matter morpholo...	ORPHA:420741
Hereditary Cryohydrocytosis With Reduced Stomatin	Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Decreased thalami...	ORPHA:168577
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, Difficulty walking, Subdural hemorrhage, Cerebral hemorrhage,...	ORPHA:536545
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Agenesis of corpus callosum, Intraventricular hemorrhage, Hypoplasia of the corpus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Agenesis of corpus callosum, Intraventricular hemorrhage, Hypoplasia of the corpus ...	ORPHA:363958
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d...	OMIM:301043
Alexander Disease	Hydrocephalus, Hypotension, Gait disturbance, Megalencephaly, Aqueductal stenosis, Hypertension, ...	ORPHA:58
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:123790
Pycnodysostosis	Hydrocephalus	ORPHA:763
Lmna-Related Cardiocutaneous Progeria Syndrome	Intracranial hemorrhage, Hypertension, Aortic valve stenosis, Congestive heart failure, Mitral re...	ORPHA:363618
Popov-Chang syndrome	Pulmonic stenosis, Hydrocephalus, Hypertension	OMIM:618428
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Lowry-Maclean Syndrome	Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus	ORPHA:2409
Osteogenesis Imperfecta	Aortic regurgitation, Ventriculomegaly, Gait disturbance, Loss of ability to walk, Ataxia, Cerebr...	ORPHA:666
Desmosterolosis	Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial...	OMIM:602398
Unilateral Polymicrogyria	Abnormal posturing, Epistaxis, Stroke, Cortical dysplasia, Microcephaly, Perisylvian polymicrogyria	ORPHA:268943
Pseudotrisomy 13 Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Polymicrogyria, Microcephaly, Hydrocephalus	OMIM:264480
Pelvis-Shoulder Dysplasia	Spina bifida, Hydranencephaly, Waddling gait, Hydrocephalus	ORPHA:2839
Multiple Sulfatase Deficiency	Microcephaly, Hydrocephalus	ORPHA:585
Idiopathic Hypereosinophilic Syndrome	Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,...	ORPHA:3260
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Axial Mesodermal Dysplasia Spectrum	Cerebral cortical atrophy, Hydrocephalus	ORPHA:1834
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Tetrasomy 5P	Lipoma of corpus callosum, Heart murmur, Congestive heart failure, Pulmonary arterial hypertensio...	ORPHA:3309
Menkes Disease	Intracranial hemorrhage, Microcephaly, Spontaneous hematomas, Gastrointestinal hemorrhage	ORPHA:565
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum...	OMIM:236670
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Ataxia, Sho...	ORPHA:90062
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Megalencephaly, Cerebral cortical atrophy, Thick corpus callosum, Hydrocephalus	OMIM:617011
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Hypoplasia of the corpus callosum, Cerebral atrophy, Hydrocephalus	OMIM:618590
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Angina pectoris, Intracranial hemorrhage, Mitral regurgitation, Left ventri...	ORPHA:740
Hellp Syndrome	Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage	ORPHA:244242
Apert Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Megalencephaly, Abnormal...	OMIM:101200
Apert Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum	ORPHA:87
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly...	OMIM:257300
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Hyperphosphatasia With Mental Retardation Syndrome 1	Cerebral cortical atrophy, Athetosis, Hydrocephalus	OMIM:239300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Inability to walk, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal ...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Inability to walk, Hyphema, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, ...	ORPHA:261552
Posterior Meningocele	Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus	ORPHA:268810
Marfanoid-Progeroid-Lipodystrophy Syndrome	Bruising susceptibility, Hydrocephalus, Hypertension, Asymmetric ventricles	OMIM:616914
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Holoprosencephaly 9	Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ...	OMIM:610829
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperactivity, Agenesis of co...	ORPHA:457284
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cerebral atrophy, Ataxia, Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Trisomy 17P	Microcephaly, Aortic valve stenosis, Hydrocephalus	ORPHA:261290
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polymicrogyria, Hydrocephalus, Anencephaly	OMIM:616546
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus	ORPHA:244
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus	ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Krakow Type	Bruising susceptibility, Hydrocephalus	OMIM:618162
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cerebral cortical atrophy, Lethargy, Microcephaly, Hydrocephalus	OMIM:277400
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Tricuspid regurgitation, Congestive heart failure, Tachycardia, Cerebral calci...	ORPHA:505248
Genitourinary And/Or Brain Malformation Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo...	OMIM:618820
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly	ORPHA:1335
Vacterl With Hydrocephalus	Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis	ORPHA:3412
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Microcephaly, Hydrocephalus, Ataxia	ORPHA:220295
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Aortic valve stenosis, Unsteady gait, Dysmetria, Simplified gyral pattern, Hype...	ORPHA:96121
Hurler Syndrome	Mitral regurgitation, Aortic regurgitation, Hydrocephalus, Cardiomyopathy	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Cardiomyopathy	OMIM:253220
Monosomy 9Q22.3	Hyperactivity, Ventriculomegaly, Hydrocephalus, Calcification of falx cerebri	ORPHA:77301
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus	OMIM:224400
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hydrocephalus	OMIM:309900
Achondroplasia	Hydrocephalus	ORPHA:15
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Dextrocardia	T-wave inversion, Hydrocephalus, Abnormal EKG	ORPHA:1666
Dyssegmental Dysplasia, Silverman-Handmaker Type	Microcephaly, Hydrocephalus	ORPHA:1865
Orofaciodigital Syndrome I	Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Abnormal cortical gyrati...	OMIM:311200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
15Q Overgrowth Syndrome	Hydrocephalus, Tricuspid regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Ag...	ORPHA:314585
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul...	OMIM:101800
Fanconi Anemia, Complementation Group D2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Bruising susceptibi...	OMIM:227646
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Semilobar Holoprosencephaly	Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Abnormal hypothalam...	ORPHA:220386
Alobar Holoprosencephaly

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