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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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