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Gene: Ccdc85c MGI:3644008

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Gene Summary

Name:
coiled-coil domain containing 85C
Synonyms:
Gm9010,  hhy

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Ccdc85c 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 Ccdc85c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ... OMIM:607596
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypoplasia of the brains... OMIM:225753
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agen... OMIM:619895
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Vascular granular osmiophilic material deposit... ORPHA:168486
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased CSF lactate, Lateral ventr... ORPHA:79243
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar h... OMIM:619302
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Lateral ventric... OMIM:617751
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Mol... OMIM:608629
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... OMIM:304340
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... ORPHA:231160
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Molar tooth sign on MRI, Agenesis of c... OMIM:619111
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Gliosis, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... OMIM:618291
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... OMIM:613154
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... OMIM:617622
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation OMIM:618330
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Increased CSF lactate, Abnormal CS... ORPHA:255182
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Cach Syndrome
Cerebellar atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration ... ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasi... OMIM:613153
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Bradycard... OMIM:617397
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Gliosis OMIM:221770
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis o... OMIM:619512
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Cerebellar hypoplasia, Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Abnormal cerebellum morp... ORPHA:97339
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Coarctation of aorta, Rhombencephalosynapsi... ORPHA:280195
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Agenesis of corpus callosum, Gliosis OMIM:615095
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis ORPHA:3035
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ... OMIM:618606
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... OMIM:613155
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial... OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis ORPHA:1788
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Chiari malformation, Aortic aneurysm ORPHA:261102
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Gliosis OMIM:236792
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Agenesis of ... ORPHA:58
Hemimegalencephaly
Gliosis, Ventriculomegaly ORPHA:99802
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation OMIM:600721
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia OMIM:610015
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... OMIM:615181
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Increased CSF lactate, Lateral ventricle dilatation, Cerebellar h... ORPHA:565624
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:420179
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Chiari malformation ORPHA:93260
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem... OMIM:615191
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Galloway-Mowat Syndrome
Aqueductal stenosis ORPHA:2065
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Huntington Disease
Cerebellar atrophy, Gliosis OMIM:143100
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Gliosis, Ventriculomegaly OMIM:300215
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:2481
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Neurofibromatosis, Type I
Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosi... OMIM:162200
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis, Ventriculomegaly OMIM:300957
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis, Ventriculomegaly OMIM:612936
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aorti... OMIM:306955
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly ORPHA:324416
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Gliosis, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:214150
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Increased CSF lactate, Gliosis, Atrophy/Degeneration affecting the brainstem,... OMIM:614946
Microcephaly-Micromelia Syndrome
Aqueductal stenosis OMIM:251230
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cardiac arrest, Basal ganglia gliosis, Increased CSF lactate, Gliosis, Hypert... OMIM:604377
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Glios... ORPHA:88619
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part... OMIM:220220
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp... ORPHA:397715
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Cardiomyopathy, Later... ORPHA:572798
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Cerebellar hypoplasia, Hypoplasia of the brainstem, Hydrocephalus OMIM:618174
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis OMIM:615119
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Kleeblattschaedel
Hydrocephalus OMIM:148800
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
1P31P32 Microdeletion Syndrome
Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Agenesis of corpus callosum, Gliosis, Increased CSF lactate OMIM:616239
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... ORPHA:300570
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal brainstem morphology, ... ORPHA:370022
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:616531
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Huntington Disease-Like 1
Cerebellar atrophy, Gliosis, Ventriculomegaly ORPHA:157941
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Gliosis OMIM:619847
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conc... OMIM:616034
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Gliosis, Increased CSF lactate OMIM:256000
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy OMIM:617757
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, L... OMIM:612863
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries OMIM:619995
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebellar hypoplasia, Cerebral hemorrhage OMIM:300049
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem ORPHA:263487
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Sporadic Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Gliosis, Astrocytosis ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Gliosis OMIM:618369
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilat... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Central Precocious Puberty In Male
Hydrocephalus, Astrocytoma, Optic nerve glioma ORPHA:649929
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus OMIM:154400
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Patent ductus arteriosus, Chiari type I malformation, Agenesis of corpus callosum,... OMIM:218350
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Spinocerebellar Ataxia 17
Cerebellar atrophy, Gliosis OMIM:607136
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Ventr... OMIM:619479
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy, Ventriculomegaly OMIM:616430
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus ORPHA:542310
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Chiari type I malformation, Hematochezia, Lateral ventricle dilatation, Dilated th... OMIM:619575
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Increased CSF protein concentration, Gliosis OMIM:608033
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220497
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Charge Syndrome
Aortic arch aneurysm, Aqueductal stenosis, Patent ductus arteriosus, Holoprosencephaly, Interrupt... ORPHA:138
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Myocardial infarction, Cerebellar dysplasia ORPHA:457240
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Gliosis, Cerebellar hypoplasia OMIM:277470
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:611209
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Distal Deletion 10Q
Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypoplasia, Inferior cerebella... ORPHA:96148
Noonan Syndrome 14
Aortic regurgitation, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrophic cardiomyopath... OMIM:619745
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Coarctation of aorta, Lateral ventricle dilatation, Cerebellar hypo... ORPHA:1692
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Pick Disease Of Brain
Gliosis OMIM:172700
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Abnormal substantia nigra morphology, Orthostatic hypotension ORPHA:2822
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy, Gliosis OMIM:109150
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Abnormal cerebrospinal fluid mor... ORPHA:247245
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220493
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus OMIM:300886
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Increased CSF protein concentrat... ORPHA:206448
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Gliosis, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:617193
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus ORPHA:363717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, ... OMIM:613150
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Ventriculome... ORPHA:467166
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... ORPHA:60040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cerebellar hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus OMIM:615249
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Leukoencephalopathy With Vanishing White Matter 1
Gliosis OMIM:603896
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Gliosis, Orthostatic hypotension due to autonomic dysfunction OMIM:169500
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis OMIM:615599
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Leigh Syndrome
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Congestive heart failure, Focal T2 h... ORPHA:506
Pallister-Hall-Like Syndrome
Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Glioma OMIM:241800
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Ascending tubular aorta aneurysm, Hypoplasi... ORPHA:444072
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261652
Weaver Syndrome
Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:277590
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr... OMIM:619487
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Left superior vena cava draining to coronary sinus, Pulmonary arter... ORPHA:464738
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Aplasi... OMIM:216360
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Gliosis OMIM:256600
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:2318
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis OMIM:105550
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... OMIM:213300
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... ORPHA:370997
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Abnormal pons morphology, Lateral ventricle dilatation, Gliosis, Cerebe... OMIM:300868
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Bainbridge-Ropers Syndrome
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:615485
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Choroid plex... OMIM:304050
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Retinal telangiectasia OMIM:620157
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus, Cerebellar calcifications, Cerebellar cyst ORPHA:616
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Bradycardia OMIM:614498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Hypoplasia of the brainstem, Holoprosenceph... OMIM:253800
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Frontotemporal Dementia With Motor Neuron Disease
Gliosis ORPHA:275872
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:609757
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus, Chiari malformation ORPHA:171839
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:620156
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Cerebellar hypopl... OMIM:617822
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Lateral ventric... OMIM:619869
Mirage Syndrome
Intracranial hemorrhage, Hydrocephalus, Patent ductus arteriosus, Petechiae OMIM:617053
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus ... OMIM:613001
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Abnormal cerebellum mor... ORPHA:2356
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid... ORPHA:68
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Aortopulmonary collateral arteries OMIM:617557
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Gliosis, Ventriculomegaly OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Gliosis, Ventriculomegaly OMIM:618222
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Dextrotransposition of the great art... OMIM:618619
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus OMIM:269920
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the great arteries... ORPHA:1926
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Aplasia/Hypoplasia of ... ORPHA:79279
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Aortic valve stenosis, Agenesis of corpus callosum, ... ORPHA:459061
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aortic valve stenosis, Tetralogy... OMIM:220210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:263520
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malformation, Agen... OMIM:618476
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:615630
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, CSF pleocytosis, CSF lymphocy... ORPHA:79139
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplas... OMIM:614643
Tay-Sachs Disease
Cerebellar atrophy, Cherry red spot of the macula, Gliosis, Ventriculomegaly ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the... OMIM:236670
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrocephalus, Pericarditis ORPHA:163596
Trisomy 1Q
Patent ductus arteriosus, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Vent... ORPHA:261344
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal dent... ORPHA:59315
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Pseudo-Torch Syndrome 3
Hypertension, Cerebellar hypoplasia, Cerebral hemorrhage OMIM:618886
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio... OMIM:617281
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:2655
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Lateral ventricle dilatation ORPHA:177907
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Menkes Disease
Intracranial hemorrhage OMIM:309400
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha... OMIM:613686
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventri... OMIM:614969
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia, Agenesis of corpus callos... OMIM:608836
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Decreased CSF albumin concentration, Decreased CSF biopterin level, Prolonged... ORPHA:404454
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Helsmoortel-Van Der Aa Syndrome
Heart murmur, Lateral ventricle dilatation, Mitral regurgitation, Gliosis, Ventriculomegaly OMIM:615873
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Cerebellar hypopl... ORPHA:163979
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation OMIM:614846
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Cerebellar hypoplasia ORPHA:280210
Methylcobalamin Deficiency Type Cble
Hypertension, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly ORPHA:2169
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:2836
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Walker-Warburg Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum, Abn... ORPHA:899
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Abnormal bleeding, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly OMIM:614576
Oculocerebrocutaneous Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morph... ORPHA:1647
Plasminogen Deficiency, Type I
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Mitral regurgitation, Ventriculomegaly, Vascular ring OMIM:603387
Emanuel Syndrome
Truncus arteriosus, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Pulmonic stenos... ORPHA:96170
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Tetralogy of Fallot, Agenesis of corpus ... OMIM:612582
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callo... OMIM:210710
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Cerebellar hypoplasia ORPHA:3240
Hypophosphatasia, Infantile
Intracranial hemorrhage OMIM:241500
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Coarctation of aorta, Molar tooth sign on MRI, Occipital meningocel... OMIM:277170
Temple Syndrome
Hydrocephalus ORPHA:254516
Rabin-Pappas Syndrome
Retinal telangiectasia, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebe... OMIM:620155
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Bruising susceptibility, Agenesis of corpus callosum, Prominent superficial veins OMIM:612940
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Ventriculomegaly OMIM:616202
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Gliosis, Ventriculomegaly OMIM:261515
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Gliosis, Congestive heart failure ORPHA:26791
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Vascular dilatation, Hydroce... OMIM:249000
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:616538
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Gliosis, Ventriculomegaly OMIM:301072
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Tarp Syndrome
Cerebellar vermis hypoplasia, Tetralogy of Fallot, Cerebellar hypoplasia, Subdural hemorrhage OMIM:311900
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Cerebellar hypoplasia, Ventriculom... OMIM:300514
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Dysplastic corpus callosum, Patent ductus arteriosus after birth at te... ORPHA:500150
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
3C Syndrome
Hydrocephalus, Tetralogy of Fallot, Pulmonic stenosis, Aplasia/Hypoplasia of the cerebellum, Aort... ORPHA:7
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Coarctation of aorta, Cerebellar hypoplasia, Holoprosencephaly, Age... OMIM:264480
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Ventriculomegaly OMIM:219730
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Precocious atherosclerosis, Myelopat... ORPHA:909
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Ventriculomegaly OMIM:252160
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure OMIM:181270
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Gliosis OMIM:248500
Emanuel Syndrome
Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Aortic valve sten... OMIM:609029
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Ventriculomegaly OMIM:252150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Patent ductus arteriosus, Colpocephaly, Pulmonary artery... OMIM:620113
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus OMIM:617244
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary... ORPHA:79282
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Ventriculome... ORPHA:1855
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... OMIM:618590
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Agenesis of corpus... OMIM:617260
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... ORPHA:464329
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Temple Syndrome
Hydrocephalus OMIM:616222
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar hypoplasia, Pulmonary arterial ... ORPHA:3309
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus, Anomalous pulmonary venous return, Transposition of the great ar... ORPHA:244
Arachnoiditis
Hydrocephalus ORPHA:137817
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Arteriovenous mal... ORPHA:974
Papillorenal Syndrome
Chiari type I malformation, Hypertension, Gliosis OMIM:120330
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of... ORPHA:228308
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Patent ductus arteriosus, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Wa... OMIM:616300
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum ORPHA:157
Apert Syndrome
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpus callo... ORPHA:457284
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Congenital Disorder Of Deglycosylation 1
Dilation of Virchow-Robin spaces, Decreased CSF albumin concentration, Gliosis, Decreased CSF 5-h... OMIM:615273
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Monosomy 18Q
Left-to-right shunt, Astrocytoma, Left aortic arch with right descending aorta and right ductus a... ORPHA:1600
Familial Cerebral Cavernous Malformation
Venous malformation, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesio... ORPHA:221061
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Meningioma
Cerebral hemorrhage, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression, Syncope ORPHA:2495
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly OMIM:616260
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Ependymoma, Brain... ORPHA:637
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Premature coronary artery atherosclerosis, Astrocytosis,... ORPHA:90324
Bresek Syndrome
Hydrocephalus ORPHA:85284
16Q24.3 Microdeletion Syndrome
Colpocephaly, Dilated cardiomyopathy, Mitral regurgitation, Ventriculomegaly ORPHA:261250
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum ORPHA:65285
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Cerebellar hypoplasia, Pulmonic stenosis, Dandy-Walker malformation, Agenesis of c... OMIM:257300
Gorlin Syndrome
Hydrocephalus ORPHA:377
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:1860
Desmosterolosis
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Hydrocephalus, Total anomalous... OMIM:602398
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Increased CSF protein concentration, Gliosis, Astrocytosis OMIM:203700
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Mola... ORPHA:434179
Fg Syndrome Type 1
Abnormal cerebellum morphology, Hydrocephalus, Coarctation of aorta, Pulmonary arterial hypertens... ORPHA:93932
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Hydrocephalus, Double outlet right ventricle OMIM:614886
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Hydrocephalus, Dilated cardiomyopathy, Patent ductus arteriosus, Ao... OMIM:607872
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Agenesis of corpus ca... ORPHA:35107
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae ORPHA:93400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate OMIM:619055
Stromme Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:243605
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Muenke Syndrome
Hydrocephalus ORPHA:53271
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, P... OMIM:615948
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... OMIM:309801
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callos... OMIM:612651
Joubert Syndrome
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Chiari type I malformation, Cardiomyopa... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Chiari type I malformation, Cardiomyopa... ORPHA:363958
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Coarctation of aorta, Incr... OMIM:220111
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Heart murmur, Colpocephaly, Mi... OMIM:614866
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Brain s... ORPHA:666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Persistent left superior vena cava, Transposition of the great arteries OMIM:314390
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp... ORPHA:3452
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tor... OMIM:175780
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Kabuki Syndrome 1
Lateral ventricle dilatation, Hydrocephalus, Coarctation of aorta OMIM:147920
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature b... OMIM:618460
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis ORPHA:261290
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Hypoplasia of the brainstem, Gliosis, Aortic valve stenosis, Ventriculomegaly ORPHA:268261
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation, Aortic aneurysm OMIM:130720
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Ventriculomegaly ORPHA:395
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Hydrocephalus ORPHA:2969
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Hydrocephalus, Chiari malformation, Bruising susceptibility OMIM:618162
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Distal Triplication 15Q
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation ORPHA:314588
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Hydrocephalus, Aplasi... ORPHA:1454
Lowry-Maclean Syndrome
Hydrocephalus, Coarctation of aorta ORPHA:2409
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t... ORPHA:1780
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... OMIM:616914
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Hereditary Late-Onset Parkinson Disease
Gliosis, Orthostatic hypotension due to autonomic dysfunction ORPHA:411602
Apert Syndrome
Overriding aorta, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of c... OMIM:101200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Dpagt1-Cdg
Prolonged QT interval, Abnormal cerebellum morphology, Stroke-like episode, Intracranial hemorrha... ORPHA:86309
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... ORPHA:2306
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Gabriele-De Vries Syndrome
Agenesis of corpus callosum, Gliosis, Ventriculomegaly ORPHA:506358
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... OMIM:261740
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet right ventricle, ... OMIM:301043
Parkinson Disease 1, Autosomal Dominant
Gliosis OMIM:168601
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Interrupted aortic arch ORPHA:250989
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Cockayne Syndrome
Cerebellar atrophy, Retinal hemorrhage, Hypertension, Retinal arteriolar constriction, Gliosis, A... ORPHA:191
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension OMIM:616482
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries ORPHA:1666
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Pulmonary artery sling, Enlarged cer... ORPHA:261537
Choreoacanthocytosis
Lateral ventricle dilatation, Dilated cardiomyopathy ORPHA:2388
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi... ORPHA:139417
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries OMIM:313850
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly ORPHA:1335
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... OMIM:609192
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Pulmonary artery sling, Enlarged cer... ORPHA:261552
Achondroplasia
Brain stem compression, Hydrocephalus OMIM:100800
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia OMIM:620351
Achondroplasia
Hydrocephalus ORPHA:15
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Hydrocephalus ORPHA:1555
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hydrocephalus OMIM:309900
Crouzon Syndrome
Hydrocephalus OMIM:123500
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Vascular dilatation, ... OMIM:311200
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Ascending tubular aorta aneurysm, Gliosis, H... OMIM:617403
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Agenesis of cor... OMIM:618820
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Ventriculomegaly OMIM:618188
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Marshall-Smith Syndrome
Hydrocephalus, Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Cerebel... OMIM:602535
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypertrophic cardiomyopathy, Gliosis OMIM:124000
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Pat... OMIM:610168
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Hydrocephalus, Mitral regurgitation OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventricu... OMIM:253280
Shprintzen-Goldberg Craniosynostosis Syndrome
Chiari type I malformation, Hydrocephalus, Aortic aneurysm OMIM:182212
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia OMIM:620083
Monosomy 9Q22.3
Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:77301
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus OMIM:104350
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation... OMIM:253200
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Holoprosencephaly, A... ORPHA:2162
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus, Heart murmur, Tetralogy of Fallot, Agenesis of corpus c... ORPHA:264450
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Cerebellar hypoplasia, Aortic valve stenosis, Ventriculo... ORPHA:96121
Aymé-Gripp Syndrome
Pericarditis, Hydrocephalus, Patent ductus arteriosus, Chiari type I malformation, Ventriculomegaly ORPHA:1272
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Hydroce... ORPHA:505248
Marden-Walker Syndrome
Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Abnormal cerebellar vermis mor... ORPHA:2461
H Syndrome
Varicose veins, Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia ORPHA:168569
Otopalatodigital Syndrome Type 2
Encephalocele, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus ORPHA:90652
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Dysplastic corpus callosum, Ventriculomegaly OMIM:613406
Hurler Syndrome
Cardiomyopathy, Hydrocephalus, Hypertension, Angina pectoris ORPHA:93473
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Partial agenesis of the corpus callosum, Hydrocephalus, Patent ductus arterio... OMIM:270400
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly ORPHA:2166
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility, Agenesis of corpus callosum OMIM:227646
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic root aneurysm, ... ORPHA:536467
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Hydrocephalus OMIM:253220
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure ORPHA:579
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis OMIM:115150
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm... ORPHA:228123
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Mitral regurgitation, Chiari malformation, Ventriculomegaly ORPHA:2462
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Wilson Disease
Face of the giant panda sign OMIM:277900
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocep... OMIM:300373
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Aortic root aneurysm OMIM:245600
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:1340
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Gliosis OMIM:618846
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Diffuse cerebellar atrophy, Abnormal brainstem morphology, Hypotension ORPHA:93256
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Mohr Syndrome
Hydrocephalus OMIM:252100
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus ORPHA:1571
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... OMIM:619472
Alobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... ORPHA:220386
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cerebellar hypoplasia OMIM:614083
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly OMIM:617011
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Costello Syndrome
Hydrocephalus, Enlarged cerebellum, Chiari type I malformation, Hypertrophic cardiomyopathy, Pulm... OMIM:218040
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, Meningoc... ORPHA:567
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Hajdu-Cheney Syndrome
Mitral stenosis, Patent ductus arteriosus, Hydrocephalus, Chiari malformation, Aortic valve stenosis ORPHA:955
Mucopolysaccharidosis Type 3
Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly ORPHA:581
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Patent ductus arteriosus, Abnormal brainstem morphology, Aortic valve steno... ORPHA:464311
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ... ORPHA:353277
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Cerebellar atrophy, Aortic regurgitation, Mitral regurgitation, Chia... ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Varicose veins, Pulm... ORPHA:2072
Holoprosencephaly 9
Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly OMIM:610829
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal aortic morphology, Abnormal carot... ORPHA:84
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Yunis-Varon Syndrome
Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Cerebellar hypoplasia, Re... ORPHA:3472
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly, Coarctation of aorta ORPHA:2322
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Raine Syndrome
Hydrocephalus OMIM:259775
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis ORPHA:538
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia,... ORPHA:2556
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Hydrocephalus, Chiari malformation ORPHA:95699
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Dilatation of the ce... OMIM:619475
Cockayne Syndrome A
Cerebellar atrophy, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left supe... OMIM:216400
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma, Aortic aneurysm, Hypertensio... ORPHA:805
Gaucher Disease
Abnormal bleeding, Hydrocephalus, Pulmonary arterial hypertension, Gingival bleeding, Cherry red ... ORPHA:355
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Fontaine Progeroid Syndrome
Prominent superficial veins, Tricuspid regurgitation, Cerebellar vermis hypoplasia, Hydrocephalus... OMIM:612289
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Pulmonary arterial hypertension, Hydrocephalus, Bruising susceptibility ORPHA:667
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Epistaxis, Patent ductus arteriosus, C... OMIM:619841
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Hydrocephalus OMIM:102500
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly ORPHA:457359
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Tricuspid regurgitation ORPHA:261337
Cryptococcosis
Hydrocephalus ORPHA:1546
Neurofibromatosis Type 1
Hypertension, Hydrocephalus, Astrocytoma, Arterial stenosis ORPHA:636
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Focal Dermal Hypoplasia
Hydrocephalus, Myelomeningocele, Telangiectasia, Chiari malformation, Spina bifida occulta, Agene... OMIM:305600
Microphthalmia With Limb Anomalies
Venous insufficiency, Hydrocephalus ORPHA:1106
Oeis Complex
Myelomeningocele, Chiari malformation, Hydrocephalus OMIM:258040
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... ORPHA:573278
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Dandy-Wal... OMIM:264090
Cockayne Syndrome B
Hypertension, Arrhythmia, Normal pressure hydrocephalus, Cerebellar calcifications OMIM:133540
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Chiari malformation OMIM:218600
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocephalus, Pulmonary ... ORPHA:3310
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy, Optic nerve ... ORPHA:363700
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Cerebellar hypoplasia OMIM:208150
Wolf-Hirschhorn Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal... ORPHA:580
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Hydrocephalus, Patent ductus arteriosus, Cardiomyopathy, Total anom... OMIM:312870
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus, Heart murmur, Chiari malformation, Tetralogy of Fallot, Enlarged ... OMIM:619325
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Pmm2-Cdg
Pericarditis, Cerebellar vermis hypoplasia, Angina pectoris, Intracranial hemorrhage, Cerebellar ... ORPHA:79318
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Pulmonic... ORPHA:3455
Hydrolethalus Syndrome 1
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus OMIM:236680
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Hydrocephalus OMIM:219000
Peters Plus Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal pulmonary vein morphology, Pulmonic stenosis, S... ORPHA:709
Peters-Plus Syndrome
Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, Ventricu... OMIM:261540
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... OMIM:164210
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Dilatation of the sinus of Valsalva, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly OMIM:107480
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele OMIM:268300

Histopathology

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

There is no histopathology data for Ccdc85c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccdc85c.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ccdc85cem1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc85cem1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Ccdc85cem1(IMPC)Wtsi Deletion Mice

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