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Gene: Casp9 MGI:1277950

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

caspase 9

Synonyms:

ICE-LAP6, Mch6, Caspase-9

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Casp9 mutations

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

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

Human diseases associated with Casp9 (0 diseases)
Human diseases predicted to be associated with Casp9 (1029 diseases)

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

The table below shows human diseases predicted to be associated to Casp9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Lissencephaly 3	Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray...	OMIM:611603
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Bulbous nose, Colpocephaly, Lissencephaly, Ventriculom...	ORPHA:2185
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly	OMIM:615041
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Periventricular Nodular Heterotopia 1	Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het...	OMIM:300049
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Holoprosencephaly 5	Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu...	OMIM:609637
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Pseudo-Torch Syndrome 2	Cerebral calcification, Petechiae, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, G...	OMIM:617397
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Perisylvian polymicrogy...	ORPHA:300573
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria, Wide nasal bridge	OMIM:614870
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Ventriculomeg...	OMIM:618709
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly	OMIM:618286
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Increased CSF lactate, Abnormal basal gang...	ORPHA:255182
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:610498
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares	ORPHA:324422
Brain Small Vessel Disease 2	Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Intracranial hemorrhage, Polymicrogy...	OMIM:614483
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pon...	OMIM:613153
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Multifocal hyperintensity of cerebral white matter on MRI, Transient ischemic attack, Cerebral he...	ORPHA:136
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Methanol Poisoning	Bilateral basal ganglia lesions, Myocardial infarction, Cerebral hemorrhage, Abnormal putamen mor...	ORPHA:31825
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Hydrocephalus, Cer...	ORPHA:97339
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph...	ORPHA:141091
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Cerebral hemorrhage, Basal ...	ORPHA:542310
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Hydrocephalus, Colpocephaly, Death in childhood, Ventriculomegaly	OMIM:616034
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge	ORPHA:488635
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:218350
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:618266
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Sneddon Syndrome	Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Stroke, Ischemic stroke	OMIM:182410
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular heterotopia, Periventricular cysts, Hypoplasia of t...	ORPHA:255138
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria, Anteverted nares	OMIM:300982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ...	OMIM:613154
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616212
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly	OMIM:619025
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atr...	ORPHA:79243
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
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,...	OMIM:600118
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Vascular granular osmiophilic material deposi...	ORPHA:168486
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Hypoplasia of the brai...	ORPHA:352682
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Simplified gyral pattern, Gray matter h...	OMIM:615219
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Hypoplasia of the pons, Microcephaly, Partial agenesis of the corpus...	OMIM:616171
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc...	OMIM:273800
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Patent ductus arteriosus, Hypohidrosis, Pachygyria, Agenesis of corpus callosum, Ve...	ORPHA:452
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Patent ductus arteriosus, Lat...	OMIM:617751
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle ...	OMIM:618291
Adams-Oliver Syndrome 2	Depressed nasal bridge, Bulbous nose, Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Oliv...	ORPHA:370959
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg...	OMIM:615286
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618577
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Lateral ventricle dilatation	OMIM:618330
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral calcification, Cerebral cavernous malformation	OMIM:116860
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Microcephaly	ORPHA:398189
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Dilation of Virchow-Robin spaces, Microcephaly, Partial agenesis of the corpus callosum, Lateral ...	OMIM:619517
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesi...	OMIM:619955
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Hydrocephalus, Simplified gyral pattern, Microcephaly	OMIM:619470
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:300884
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor...	OMIM:617668
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, ...	OMIM:616342
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon, Ventriculomegaly, Aplasia/Hypoplasia of the cor...	ORPHA:401986
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401815
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Increased CSF lactate, Agenesis of corpus callosum, Adrenal insufficiency	OMIM:618238
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, Secondary micro...	OMIM:618174
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:164180
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Coach Syndrome 2	Hypertension, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia...	OMIM:225790
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Short nose, Ven...	OMIM:619833
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:1516
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,...	OMIM:613443
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Antenatal intracerebral hemorrhage, D...	OMIM:608836
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Increased CSF lactate, Basal ganglia cysts, Agenesis of corpus ca...	OMIM:312170
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl...	OMIM:610015
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Wide nasal bridge, La...	OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Multifocal cerebral white matter...	ORPHA:140989
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Myelomeningocele, Meningocele, Partial agenesi...	ORPHA:101030
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l...	OMIM:300845
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Anteverted nares	OMIM:618731
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk...	OMIM:615889
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Non-Functioning Paraganglioma	Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart failure, Palpitations, Positive reg...	ORPHA:94080
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Baraitser-Winter Syndrome 1	Microcephaly, Patent ductus arteriosus, Lissencephaly, Aortic valve stenosis, Pachygyria, Agenesi...	OMIM:243310
Martsolf Syndrome 2	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619420
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, Patent ductus arteriosus, Lissencephaly, Hypoplasia of the corpus callosum, Agenesi...	OMIM:618142
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p...	OMIM:607596
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:77299
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Extra-axial cerebrospinal fluid a...	OMIM:617669
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Lissencephaly, X-Linked, 2	Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Decreased circulating total IgM, Lateral ventricle dilatation, D...	OMIM:612301
Pseudo-Torch Syndrome 3	Cerebral calcification, Cerebral hemorrhage, Lymphadenitis, Hypertension, Abnormal cerebral white...	OMIM:618886
Halperin-Birk Syndrome	Colpocephaly, Death in childhood, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly...	OMIM:618651
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent...	OMIM:616362
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha...	ORPHA:284417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca...	OMIM:613155
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:251056
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Pachygyria, Hydrocephalus, Abnormality of n...	ORPHA:157
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence...	ORPHA:89844
Desmosterolosis	Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Patent ductus arteriosus, Hyd...	ORPHA:35107
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, I...	ORPHA:500144
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Opti...	OMIM:614643
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Abeta Amyloidosis, Dutch Type	Cerebral calcification, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Probst bundles, Tricuspid regurgitation, Patent ductus arteriosus, ...	OMIM:612863
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Depressed nasal bridge, Meningocele, Lateral ventricle...	ORPHA:397715
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microc...	OMIM:620113
Fried Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ...	OMIM:253800
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicrogyria, Anterior hypopi...	ORPHA:280195
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Aplasia/Hypoplasia of th...	ORPHA:2481
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Patent ductus arteriosus, Co...	OMIM:617260
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio...	ORPHA:228308
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Tetralogy of Fa...	OMIM:300887
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Hydrocephal...	ORPHA:899
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Depressed nasal ridge, Exencephaly, Abnormality of neu...	ORPHA:2211
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Subependymal cysts, Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Gómez-López-Hernández Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:1532
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo...	OMIM:609053
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Cerebral cortical hemiatrophy	ORPHA:306669
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Trisomy 1Q	Patent ductus arteriosus, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Vent...	ORPHA:261344
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Colpocephaly, Hypoplasia of the corpus callosum, Agene...	OMIM:618619
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Mitral regurgitation, Megalencephaly	ORPHA:83473
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Wide nasal bridge, Short nose, Broad nasal tip	OMIM:615716
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Patent ductu...	OMIM:609757
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral calcification, Cerebral hemorrhage, Diffuse alveolar hemorr...	ORPHA:464321
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degenera...	ORPHA:135
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus ca...	ORPHA:272
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Bulbous nose, Lateral vent...	OMIM:614105
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Cerebral atrophy, Intraventricular hemorrhage, Ventriculomegaly	OMIM:616430
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microcephaly, Megalencephaly, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
Frontonasal Dysplasia 1	Pericallosal lipoma, Anterior basal encephalocele, Cranium bifidum occultum, Tetralogy of Fallot,...	OMIM:136760
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migration, Holopr...	ORPHA:93274
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Vici Syndrome	Hypoplasia of the pons, Decreased circulating IgG2 level, Gray matter heterotopia, Cardiomyopathy...	ORPHA:1493
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric...	OMIM:619995
Aicardi-Goutieres Syndrome 4	Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv...	OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Temtamy Syndrome	Aortic regurgitation, Thick corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Aorti...	OMIM:218340
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Increased CSF protein concentration, Diffuse white matter abnormalities, Agenesis of corpus callo...	OMIM:218000
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Tetralogy of Fallot, Agenesis of corpus ...	OMIM:612582
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Abnormal cortical gyration, Impaired T cell function, Microcephaly, Patent duc...	OMIM:614576
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Cerebral Visual Impairment	Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Abnormal cerebral w...	ORPHA:447788
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Ab...	ORPHA:2148
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Perive...	OMIM:619895
Emanuel Syndrome	Truncus arteriosus, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Abno...	ORPHA:96170
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:397951
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Cerebellar hypoplasia, Hyperi...	OMIM:618476
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal neovascularization...	OMIM:619074
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Increas...	ORPHA:565624
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Desmosterolosis	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Partial agenesis of the corpus callosum, A...	OMIM:602398
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Dandy-Walker mal...	OMIM:611134
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Vascular ring, Mitral regurgitation, Hypopl...	OMIM:603387
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Aplasia of the nose, Agenesis o...	OMIM:301043
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:420179
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Abnormal septum pellucidum morphology, Hydrocephalus, Cerebral atrophy	ORPHA:171839
Toriello-Carey Syndrome	Microcephaly, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Tetralogy of Fal...	ORPHA:3338
Joubert Syndrome With Renal Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign on MRI, ...	ORPHA:220497
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Anteverted nares, Dandy-Walker malformation	OMIM:618606
Aicardi Syndrome	Anteverted nares, Spina bifida, Dilated third ventricle, Partial agenesis of the corpus callosum,...	OMIM:304050
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi...	OMIM:613150
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,...	OMIM:171420
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt...	ORPHA:208447
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Hypopituitarism, Dilation of Virchow-Robin spac...	OMIM:603671
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Multifocal cerebral white matter abnormalities, Subependymal cysts, Cardiom...	OMIM:600721
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Cere...	OMIM:613001
Thanatophoric Dysplasia	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Dilation of Virchow-Robin spaces, Microcephaly, Cerebral cortical a...	OMIM:619720
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Depressed nasal bridge, Lateral ventricle dilatation	OMIM:619575
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Aortic valve stenosis, Agenesis of corpus callosum, ...	ORPHA:459061
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal c...	ORPHA:2177
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Alg3-Cdg	Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation, Abnormality of the nose	ORPHA:79321
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Patent ductus arteriosus, Hydrocephalus, Coarctation of aort...	OMIM:300514
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Microcephaly, Hydrocephalus, Bruising susceptibility, Agenesis of co...	OMIM:612940
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy	OMIM:616521
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Hydrocepha...	ORPHA:363717
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Hydrolethalus	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Absent septum pellucidum	ORPHA:2189
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart failure, Palpitations, Positive reg...	ORPHA:276621
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Tetralogy of Fallot, Agenesis of corpus callosum	OMIM:250620
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Microcephaly, Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time, Neo...	OMIM:619055
Riddle Syndrome	Conjunctival telangiectasia, Microcephaly, Intraventricular hemorrhage, Telangiectasia, Decreased...	ORPHA:420741
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Absent septum pellucidum, Microcephaly, Conotruncal defect, Coarctation of ...	ORPHA:96147
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Diencephalic Syndrome	Hydrocephalus, Hyperhidrosis	ORPHA:1672
Mirage Syndrome	Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Adrenal insufficiency, Petechiae	OMIM:617053
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Abnormal left ventricular function, Cereb...	OMIM:301056
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Choroid plexus cyst, Hypoplasia of the olfactory bulb, Hypopituitaris...	ORPHA:1827
Joubert Syndrome With Ocular Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign on MRI, ...	ORPHA:220493
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Molar tooth sign on MRI, Dandy-Wa...	OMIM:614175
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebral cor...	ORPHA:163961
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hypothyroidism...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hypothyroidism...	ORPHA:363958
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypopla...	OMIM:236670
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat...	ORPHA:3078
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Decreased response...	OMIM:182230
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol...	ORPHA:1908
Distal Deletion 10Q	Prominent nasal bridge, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Lateral vent...	ORPHA:96148
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
Joubert Syndrome With Oculorenal Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of neuronal m...	ORPHA:2318
Slc35A2-Cdg	Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb...	ORPHA:356961
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:613735
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Cerebellar h...	OMIM:264480
Fumarase Deficiency	Decreased fumarate hydratase activity, Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypop...	OMIM:606812
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Hypohidrosis, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, H...	ORPHA:1812
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, P...	OMIM:619775
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Patent ductus arteriosus, Hy...	ORPHA:363528
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasi...	OMIM:615802
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Periventricular heterotopia, Hypoplasia of the pons, Olivopontocerebellar...	ORPHA:468631
Blepharocheilodontic Syndrome 1	Neural tube defect, Choanal atresia	OMIM:119580
Fanconi Anemia, Complementation Group D2	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Bone marrow hypocellularity, Hypoplasia of...	OMIM:227646
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hydrocephalus, Secondary microcephaly, Lissencephaly, Hypertrophic card...	OMIM:612938
1Q21.1 Microdeletion Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Interrupted aortic arch, Agenesis of corpu...	ORPHA:250989
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:52055
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Pulmonary arterial hypertension, Hypoplasia of the corpus callosu...	OMIM:616449
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ...	ORPHA:314679
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum	OMIM:617296
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Cerebral hemor...	ORPHA:2495
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele	OMIM:617562
Tetrasomy 15Q26	Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation	OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy	OMIM:617854
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat...	ORPHA:293725
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Nasu-Hakola Disease	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Hol...	OMIM:618820
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Increased CSF lactate	OMIM:616239
16P13.11 Microdeletion Syndrome	Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum, ...	ORPHA:261236
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Dilated cardiomyopathy, Colpocephaly, Mitral...	ORPHA:261250
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrocephalus, Cerebral atrophy	OMIM:269920
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Aplasia...	ORPHA:60040
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Patent ductus arteriosus, Anencephaly, Pulmonic stenosis, Agenesis o...	OMIM:619148
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Emanuel Syndrome	Truncus arteriosus, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Hypo...	OMIM:609029
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Neurooculorenal Syndrome	Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplas...	OMIM:620305
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart failure, Palpitations, Positive reg...	ORPHA:29072
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, H...	OMIM:617281
Familial Multiple Nevi Flammei	Cerebral calcification, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteri...	ORPHA:624
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus	OMIM:300886
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Fetal Gaucher Disease	Neonatal death, Stillbirth, Intracranial hemorrhage	ORPHA:85212
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi...	OMIM:300952
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus c...	OMIM:613457
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Ritscher-Schinzel Syndrome 4	Mild fetal ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker mal...	OMIM:619435
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the bra...	OMIM:615574
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Cerebella...	OMIM:257300
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Bulbous nose	ORPHA:544488
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Pai Syndrome	Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose	ORPHA:1993
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Double outlet right vent...	OMIM:614886
Diabetic Embryopathy	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Abnorm...	ORPHA:1926
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,...	OMIM:171300
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Microform Holoprosencephaly	Microcephaly, Panhypopituitarism, Agenesis of corpus callosum, Holoprosencephaly, Tetralogy of Fa...	ORPHA:280200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Microcephaly, Patent ductus arteriosus, Cardiomyopathy, Cerebellar hypoplasia, Agenesis of corpus...	OMIM:217980
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Increased CSF alanine concentration, Increased CSF citrulline conc...	ORPHA:3008
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Diffuse cerebral atrophy	OMIM:245200
Sotos Syndrome	Patent ductus arteriosus, Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventr...	OMIM:117550
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Absent septum pellucidum, Microcephaly, Junctional ectopic tachycardia, Hydroce...	OMIM:309801
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Microcephaly	OMIM:300558
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign...	OMIM:616546
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Intellectual Developmental Disorder, Autosomal Dominant 70	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal...	OMIM:620157
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:300472
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuos...	OMIM:175780
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebral atrophy, Leukoencephalopathy, Ca...	ORPHA:572798
Melas	Hypoparathyroidism, Increased CSF protein concentration, Wolff-Parkinson-White syndrome, Cardiac ...	ORPHA:550
Bainbridge-Ropers Syndrome	Death in infancy, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdevelope...	OMIM:615485
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Brainstem dysplasia, Hyd...	OMIM:608091
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Cer...	ORPHA:163979
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Bone marrow hypocellul...	ORPHA:3226
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Lateral ventricle dilatation	OMIM:618914
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Hyperhi...	ORPHA:666
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Tricuspid regurgitation, Agenesis of corpus callosum, Coarctation of aorta, Periventricular heter...	OMIM:618929
B4Galt1-Cdg	Abnormal bleeding, Hydrocephalus, Cerebellar hypoplasia, Hypothyroidism, Dandy-Walker malformation	ORPHA:79332
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t...	ORPHA:1780
Alexander Disease	Cerebral calcification, Sudden cardiac death, Megalencephaly, Aqueductal stenosis, Hydrocephalus,...	ORPHA:58
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per...	OMIM:617360
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Coarctation of aorta, Lateral ventricle dilatation, Cerebellar hypo...	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus cal...	OMIM:616538
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Anterior hypopituitarism, Microcephaly	OMIM:241800
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Pulmonary arterial hypertension, Lateral ventricle dilatation, Hy...	ORPHA:464738
Bresek Syndrome	Neonatal death, Hydrocephalus, Optic nerve hypoplasia, Microcephaly	ORPHA:85284
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Tricuspid regurgita...	OMIM:618460
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage, Increased circulating IgE level, Increased circulat...	OMIM:243700
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Double outlet right ventric...	OMIM:220210
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Choroid plexus cyst	OMIM:612337
Birk-Landau-Perez Syndrome	Hypertension, Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Cog5-Cdg	Lateral ventricle dilatation, Prominent nose, Wide nasal bridge, Atrophy/Degeneration affecting t...	ORPHA:263487
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Death in childhood	OMIM:619847
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Patent ductus arteriosus, Coarctation ...	ORPHA:2745
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly	OMIM:619312
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arch, ...	ORPHA:457284
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Aspergillosis	Intracranial hemorrhage, Increased circulating IgE level, Stroke	ORPHA:1163
Fanconi Anemia, Complementation Group R	Hydrocephalus, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, ...	OMIM:617244
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial hemorrhage, Adrenocorticot...	ORPHA:91350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Anteverted nares, Abnormal cortical gyration, Prominent nose, Hydrocephalus, Pa...	OMIM:210710
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Hypoplasia of ...	OMIM:617822
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar h...	ORPHA:1647
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Semilobar holoprosencephaly, Hyp...	OMIM:618500
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Cerebral atrophy	OMIM:606054
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Heart block, Basal ganglia calcification, Hydrocephalus...	ORPHA:398124
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Subarachnoi...	ORPHA:247245
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, L...	OMIM:619869
Isovaleric Acidemia	Cerebellar hemorrhage, Bone marrow hypocellularity	OMIM:243500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Patent ductus arteriosus, Hydrocephalus, Macrog...	OMIM:602535
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
Kleefstra Syndrome	Microcephaly, Pulmonary artery stenosis, Coarctation of aorta, Arrhythmia, Tetralogy of Fallot, A...	ORPHA:261494
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Monosomy 18Q	Left-to-right shunt, Microcephaly, Left aortic arch with right descending aorta and right ductus ...	ORPHA:1600
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Coarctation of aorta, Subcort...	ORPHA:2396
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Cerebral calcification, Pericarditis, Portal hypertension, Microcephaly, Basa...	OMIM:619487
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in...	ORPHA:536545
Familial Hyperaldosteronism Type Ii	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:404
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Macrogyria, Heart murmur, Colpocephaly, Mitral reg...	OMIM:614866
Ring Chromosome 22 Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydr...	OMIM:619512
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis...	ORPHA:434179
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth	OMIM:241500
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Patent ductus arteriosus, Choroid plexus cyst, Stillbirth, Lissen...	OMIM:256520
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst...	ORPHA:2169
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Microcephaly, Focal polymicr...	OMIM:619103
Trisomy 17P	Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Microcephaly	ORPHA:261290
Weaver Syndrome	Depressed nasal bridge, Patent ductus arteriosus, Lateral ventricle dilatation, Umbilical hernia,...	OMIM:277590
Bohring-Opitz Syndrome	Microcephaly, Gray matter heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus call...	OMIM:605039
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra...	ORPHA:251274
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Dexamethasone-suppressible primary hyperaldosteronism, Epi...	ORPHA:403
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:93262
Fryns Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology, Dandy-Walker ma...	ORPHA:2059
Vascular Hyalinosis	Hematochezia, Cerebral calcification, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Oral cavity bl...	ORPHA:324636
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Hypohidrosis, Aplasia/Hy...	ORPHA:3157
Monosomy 13Q34	Epistaxis, Microcephaly, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Agenesis of...	ORPHA:96168
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Decreased circulating IgG2 level, Con...	OMIM:242840
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hyperaldo...	ORPHA:369929
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pituitary gland, M...	OMIM:619479
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypo...	ORPHA:2822
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Su...	ORPHA:2356
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Menkes Disease	Intracranial hemorrhage, Microcephaly	OMIM:309400
15Q Overgrowth Syndrome	Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag...	ORPHA:314585
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Tempi Syndrome	Intracranial hemorrhage, Increased circulating IgG level, Telangiectasia	ORPHA:284227
Immunodeficiency 49	Pulmonary artery stenosis, Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage, Microcephaly	OMIM:616682
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, P...	OMIM:610828
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Vascular dilat...	OMIM:249000
Smith-Lemli-Opitz Syndrome	Death in infancy, Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Patent d...	OMIM:270400
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Hydrocephalus, Cerebral atrophy, Hypoplasia of the brainstem, Progressive...	OMIM:614969
Primary Ciliary Dyskinesia	Nasal polyposis, Hydrocephalus, Nasal congestion, Chronic rhinitis, Ventriculomegaly	ORPHA:244
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
3C Syndrome	Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration, Pulmonic stenosis, Aplasia/Hy...	ORPHA:7
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Microcephaly	OMIM:613330
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Ap...	ORPHA:475
Apert Syndrome	Overriding aorta, Absent septum pellucidum, Megalencephaly, Hydrocephalus, Hyperhidrosis, Cerebel...	OMIM:101200
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ga...	OMIM:304340
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth...	ORPHA:314621
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydrocephalus, Porencephalic cyst, Ce...	OMIM:311200
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ...	ORPHA:42775
Isotretinoin-Like Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc...	ORPHA:2306
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Noonan Syndrome 14	Aortic regurgitation, Hyperhidrosis, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrophi...	OMIM:619745
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta	ORPHA:268249
Griscelli Syndrome	Encephalocele, Hydrocephalus, Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Abnormal globus pallidus morphology, Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy	OMIM:251000
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Decreased response to growth hormone stimulation test, Ant...	ORPHA:177907
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Crouzon Syndrome	Hydrocephalus, Cerebellar hypoplasia	ORPHA:207
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Porencephalic cys...	ORPHA:974
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Leu...	ORPHA:79282
Coffin-Siris Syndrome 4	Microcephaly, Patent ductus arteriosus, Pulmonic stenosis, Pulmonary artery atresia, Agenesis of ...	OMIM:614609
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Defective DNA rep...	ORPHA:33364
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Congestive heart fai...	ORPHA:506
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Coarctation of aorta, Occipital meningocele, Pe...	OMIM:277170
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Microcephaly,...	OMIM:615948
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge	OMIM:611209
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Megalencephaly, Congestive heart failure, Hydrocephalus, Hypoplasia of the corpus callosum, Neona...	OMIM:616482
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Cavum septum pellucidum, Cerebral cortical atrophy, V...	OMIM:616260
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Distal Triplication 15Q	Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation	ORPHA:314588
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:231625
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Hydrocephalus	ORPHA:31
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:3376
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Increased circulating IgG...	ORPHA:99827
Thoracoabdominal Syndrome	Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries	OMIM:313850
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Optic nerve hypoplasia, Spina bifida, Microcephaly, Tetralogy of Fallot, Co...	ORPHA:508498
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal corpus callosum morphology, Abnor...	ORPHA:457279
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Hypohidrosis	ORPHA:1946
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Stroke, Abnormal perivent...	ORPHA:395
Gorlin Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:377
Tarp Syndrome	Cerebellar vermis hypoplasia, Subdural hemorrhage, Cerebellar hypoplasia, Neonatal death, Tetralo...	OMIM:311900
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Decreased circulating total IgM, Hydrocephalus, Bruising susceptibility	OMIM:618162
Coffin-Siris Syndrome	Microcephaly, Patent ductus arteriosus, Simplified gyral pattern, Tetralogy of Fallot, Agenesis o...	ORPHA:1465
8P Inverted Duplication/Deletion Syndrome	Tetralogy of Fallot, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the...	OMIM:208530
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Panhypopituitari...	ORPHA:220386
Temple Syndrome	Hydrocephalus	OMIM:616222
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum...	OMIM:206900
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Agenesis of corpus callosum, Adrenal insufficiency	ORPHA:261476
Multiple Sulfatase Deficiency	Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology, Increased CSF ...	OMIM:272200
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Death in adolescence	OMIM:619229
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Lateral ven...	OMIM:300868
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Periventricular leukomalacia, Transient ischemic attack, Optic n...	ORPHA:500150
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Rabin-Pappas Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal...	OMIM:620155
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis o...	OMIM:151050
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Persistent left superior vena cava, Transposition of the great art...	OMIM:314390
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Partial anomalous pulmonary venous return,...	OMIM:617478
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus cal...	OMIM:300373
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Prominent nose, Patent ductus arteriosus, Stillbirth, Molar tooth sign on MRI, Dan...	OMIM:616300
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Icf Syndrome	Communicating hydrocephalus, Abnormality of chromosome stability, Decreased circulating antibody ...	ORPHA:2268
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, Agenesis of corpus callosum	OMIM:309520
Jacobsen Syndrome	Spina bifida, Cerebral atrophy, Coarctation of aorta, Bone marrow hypocellularity, Aortic valve s...	ORPHA:2308
Arachnoiditis	Anhidrosis, Hydrocephalus	ORPHA:137817
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Cerebral calcification, Tricuspid regurgitation, Congestive heart failure, Patent du...	ORPHA:505248
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Microcephaly, Congenital hypothyroidism, Pulmonary arterial hypertension, Cav...	ORPHA:209905
Lowry-Maclean Syndrome	Hydrocephalus, Microcephaly, Coarctation of aorta, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Tetrasomy 5P	Pericallosal lipoma, Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar hypoplasia...	ORPHA:3309
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Holoprosencephaly 9	Abnormal cortical gyration, Decreased response to growth hormone stimulation test, Optic nerve hy...	OMIM:610829
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Right bundle branch block, Cerebel...	OMIM:618590
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2836
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Trisomy 8P	Peripheral pulmonary artery stenosis, Microcephaly, Hydrocephalus, Heart murmur, Tetralogy of Fal...	ORPHA:264450
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Still...	OMIM:236680
Lateral Meningocele Syndrome	Patent ductus arteriosus, Hydrocephalus, Meningocele, Aortic aneurysm	OMIM:130720
Sturge-Weber Syndrome	Conjunctival telangiectasia, Cerebral calcification, Abnormal cerebral vascular morphology, Pulmo...	ORPHA:3205
Orofaciodigital Syndrome Type 5	Tetralogy of Fallot, Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, E...	OMIM:619418
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:305450
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha...	OMIM:613686
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Hydrocephalus	OMIM:104350
Fg Syndrome Type 1	Optic nerve hypoplasia, Hydrocephalus, Coarctation of aorta, Aplasia/Hypoplasia of the corpus cal...	ORPHA:93932
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Coarctation of a...	OMIM:619480
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Hydrocephalus, Abnorm...	ORPHA:1454
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,...	ORPHA:90062
Rhombencephalosynapsis	Hydrocephalus, Agenesis of cerebellar vermis, Ventriculomegaly, Septo-optic dysplasia	ORPHA:59315
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Microcephaly, Hypothyroidism, Patent ductus arteriosus, Hydrocephal...	OMIM:607872
Bohring-Opitz Syndrome	Microcephaly, Bradycardia, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis...	ORPHA:97297
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Hashimoto t...	ORPHA:109
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Agenesi...	OMIM:615465
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cerebellar hypoplasia, Arrhythmia, Pachygyria, Agenesis of c...	ORPHA:93317
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death	OMIM:269860
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Patent ductus arteriosus, Stroke, Ventriculomegaly	OMIM:618188
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp...	ORPHA:3452
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Epistaxis, Micr...	OMIM:619841
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Hyperhidrosis, Intracranial hemorrhage, Melena, Hyper...	ORPHA:340
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum, Transposition of the great arteries, Double outlet rig...	OMIM:605376
Plasminogen Deficiency, Type I	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Orofaciodigital Syndrome V	Tetralogy of Fallot, Agenesis of corpus callosum, Microcephaly	OMIM:174300
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Increased circulating gonadotropin level, ...	ORPHA:91348
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Narrow nasal ridge	OMIM:620083
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Anteverted nares, Wide nasal bridge, Narrow nasal tip	ORPHA:477993
Congenital Sialidosis Type 2	Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae	ORPHA:93400
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Aymé-Gripp Syndrome	Pericarditis, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebra...	ORPHA:1272
Mowat-Wilson Syndrome	Pulmonary artery sling, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Patent duc...	OMIM:235730
Osteopetrosis, Autosomal Recessive 5	Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Cerebral atrophy, Stillbirth, Ve...	OMIM:259720
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Dilation of Virchow-Robin spaces	OMIM:619951
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju...	ORPHA:464329
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Broad nasal tip	OMIM:617557
Congenital Myopathy 22A, Classic	Neonatal death, Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia	OMIM:620351
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Primary adr...	ORPHA:168558
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aorti...	OMIM:306955
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Primary adr...	ORPHA:289548
1P36 Deletion Syndrome	Aortic arch aneurysm, Microcephaly, Patent ductus arteriosus, Dilated cardiomyopathy, Telangiecta...	ORPHA:1606
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Atrophy/Degeneration affecting the brainstem	ORPHA:314404
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia	ORPHA:2119
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Hyperhidrosis, Gray matter heterotopia, Hyp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Hyperhidrosis, Gray matter heterotopia, Hyp...	ORPHA:352665
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:264200
Holoprosencephaly	Encephalocele, Microcephaly, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism,...	ORPHA:2162
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Simplified gyral pattern, Cerebellar hypoplasia, Aortic ...	ORPHA:96121
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Knobloch Syndrome	Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep...	OMIM:616914
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Lateral ventricle dilatation, Narrow naris, Underdeveloped nasal alae	OMIM:614098
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Basal ganglia calcification, Subdural hemorrhage, Retinal hemorrha...	ORPHA:90324
Menkes Disease	Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Arterial stenosis, Intracranial ...	ORPHA:565
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Yunis-Varon Syndrome	Hydrocephalus, Tetralogy of Fallot, Renovascular hypertension, Hypertension, Cardiomyopathy, Cere...	ORPHA:3472
Proteus-Like Syndrome	Communicating hydrocephalus, Venous insufficiency, Hydrocephalus	ORPHA:2969
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
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dilated cardiomyo...	ORPHA:2556
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Cerebral atrophy, Decreased circulating antibody level	OMIM:616084
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hyperhidrosis, Pulmonic stenosis, Hyper...	OMIM:115150
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu...	OMIM:613884
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus	ORPHA:8
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:226307
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Microcephaly	ORPHA:1865
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hydrocephalus,...	OMIM:616007
Genitopatellar Syndrome	Wide nose, Prominent nasal bridge, Periventricular heterotopia, Prominent nose, Wide nasal bridge...	OMIM:606170
Kabuki Syndrome 1	Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Congenital hypothyroidism, Lateral ventric...	OMIM:147920
Multiple Sulfatase Deficiency	Hydrocephalus, Microcephaly	ORPHA:585
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Dysplastic corpus callosum, ...	OMIM:613406
Loeys-Dietz Syndrome 1	Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,...	OMIM:609192
Genitopalatocardiac Syndrome	Hydrocephalus, Microcephaly	ORPHA:2075
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Tricuspid regurgitation, Lateral ventricle dilatation, Pachygyria	OMIM:263520
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria	ORPHA:65285
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity, Hydrocephalus, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Broad nasal tip, Wide na...	OMIM:615873
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hydrocephalus, Cerebellar hypoplasia, Bone marrow hypocellularity, Chromosom...	OMIM:614083
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of...	OMIM:605627
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short umbilical cord	OMIM:618367
Dpagt1-Cdg	Prolonged QT interval, Microcephaly, Stroke-like episode, Intracranial hemorrhage, Cerebellar hyp...	ORPHA:86309
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension, Decreased circulating cortisol level	ORPHA:90795
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Perlman Syndrome	Agenesis of corpus callosum, Pancreatic islet-cell hyperplasia, Interrupted aortic arch	OMIM:267000
Rubinstein-Taybi Syndrome 1	Spina bifida, Microcephaly, Patent ductus arteriosus, Coarctation of aorta, Persistent left super...	OMIM:180849
Degcags Syndrome	Tachycardia, Microcephaly, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic...	OMIM:619488
Coccidioidomycosis	Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Increased...	ORPHA:228123
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Abnormal cere...	ORPHA:506358
Fryns Syndrome	Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Agenesis of corpus call...	OMIM:229850
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Decreased response to growth hormone stimulation test, Absent septum pellu...	ORPHA:95494
Orofaciodigital Syndrome Type 1	Hypertension, Dandy-Walker malformation, Agenesis of corpus callosum, Vascular dilatation, Exocri...	ORPHA:2750
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Impaired T cell function, Spina...	ORPHA:567
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Increased circulating IgE level, Cardiomyopathy, Panc...	ORPHA:373
Acrofacial Dysostosis 1, Nager Type	Microcephaly, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, ...	OMIM:154400
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Microcephaly, Spina bifida, Diffuse cerebral atrophy	OMIM:613776
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:2720
Craniopharyngioma	Cerebral calcification, Myocardial infarction, Hydrocephalus, Pituitary hypothyroidism, Central a...	ORPHA:54595
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Achondroplasia	Hydrocephalus	ORPHA:15
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum, Elevated circulating follicle stimulating hormone level, Elevated ci...	OMIM:618419
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly	ORPHA:1335
Fanconi Anemia	Abnormality of chromosome stability, Spina bifida, Microcephaly, Patent ductus arteriosus, Hydroc...	ORPHA:84
Fontaine Progeroid Syndrome	Prominent superficial veins, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Periventricul...	OMIM:612289
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anteverted nares, Anterior pituitary hypoplasia, Depressed nasal bridge, Aqueductal stenosis, Hyd...	OMIM:619534
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e...	OMIM:261740
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Tetralogy of Fallot, Agenesis of corpus callosum	ORPHA:306542
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Absent septum pellucidum, Agenesis of corpus callosum, Abnormal cortical gyra...	ORPHA:2538
Scalp-Ear-Nipple Syndrome	Anteverted nares, Depressed nasal bridge, Hypohidrosis, Lateral ventricle dilatation, Short colum...	OMIM:181270
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Dextrocardia	Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries	ORPHA:1666
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte...	OMIM:610168
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Hydrocephalus	ORPHA:1555
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hydrocephalus	OMIM:309900
Nelson Syndrome	Adrenocorticotropic hormone excess, Intracranial hemorrhage, Hypertension, Increased circulating ...	ORPHA:199244
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus, Microcephaly	ORPHA:220295
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:2166
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hydrocephalus, Mitral regurgitation	OMIM:607014
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Increased circulating IgG level, Hypothyroidism,...	OMIM:619472
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Raine Syndrome	Neonatal death, Hydrocephalus, Cerebral calcification, Microcephaly	OMIM:259775
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Peters-Plus Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Pulmonic stenosis, Agene...	OMIM:261540
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Wide nasal bridge, Hypopl...	ORPHA:444072
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia...	OMIM:300896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb...	ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypopla...	OMIM:253280
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Hydrocephalus, Cerebral cortical atrophy, Pulmonic stenosis	ORPHA:1340
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation...	OMIM:253200
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Pancreatic...	OMIM:312870
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Tricuspid regurgitation, Microcephaly	ORPHA:261337
Achondroplasia	Hydrocephalus, Megalencephaly	OMIM:100800
Ring Chromosome 13 Syndrome	Agenesis of corpus callosum, Anencephaly, Primary hypothyroidism, Microcephaly	ORPHA:96176
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Aortic aneurysm, Microcephaly	OMIM:182212
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Hydrocephalus	OMIM:253220
H Syndrome	Varicose veins, Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia	ORPHA:168569
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Hurler Syndrome	Cardiomyopathy, Hydrocephalus, Hypertension, Angina pectoris	ORPHA:93473
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Holoprosencephaly 2	Microcephaly, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:157170
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Increased circulating IgM lev...	ORPHA:79139
Dubowitz Syndrome	Hypoparathyroidism, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spina...	ORPHA:235
Schinzel-Giedion Syndrome	Broad nasal tip, Choroid plexus cyst, Central hypothyroidism, Neural tube defect, Choanal stenosi...	ORPHA:798
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic root aneurysm, ...	ORPHA:536467
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymic...	OMIM:218600
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge, ...	OMIM:101800
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure	ORPHA:579
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis, Calcification of the aorta	OMIM:231005
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Tetralogy of Fallot, Agenesis of corpus callosum, Coarctation of aorta	OMIM:618748
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Coffin-Siris Syndrome 1	Microcephaly, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Tetralogy of Fal...	OMIM:135900
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Cerebral white matter ...	ORPHA:168577
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:220111
Monosomy 9Q22.3	Calcification of falx cerebri, Hydrocephalus, Ventriculomegaly	ORPHA:77301
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Hydrocephalus	OMIM:102500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus, Aortic root aneurysm	OMIM:245600
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Pulmonary ...	ORPHA:2152
Otopalatodigital Syndrome Type 2	Encephalocele, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus	ORPHA:90652
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Hydrocephalus, Mitral stenosis, Aortic valve stenosis	ORPHA:955
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis of ...	OMIM:305600
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma...	ORPHA:68
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hyperthyroidism, Abnormal corpus striatum morphology, Decreased response t...	ORPHA:3455
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly	ORPHA:280
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi...	ORPHA:139417
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Varicose veins, Pulm...	ORPHA:2072
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Thick corpus callosum, Cerebral cortical atrophy, Ve...	OMIM:617011
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis	OMIM:616037
Craniofacial Microsomia 1	Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor...	OMIM:164210
Kabuki Syndrome	Microcephaly, Hydrocephalus, Coarctation of aorta, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2322
Mend Syndrome	Hydrocephalus, Aortic valve stenosis, Hypoplasia of the corpus callosum, Dandy-Walker malformation	ORPHA:401973
Cryptococcosis	Hydrocephalus, Prostatitis, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Peters Plus Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Congenital hypothyroidism, Aplasia/Hypopla...	ORPHA:709
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly, Microcephaly	ORPHA:2462
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Meckel Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla...	ORPHA:564
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:147791
Gaucher Disease	Abnormal bleeding, Hydrocephalus, Pulmonary arterial hypertension, Increased circulating antibody...	ORPHA:355
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Cavum septum pellucidum, Subdural hemorrhage, Microcephaly	OMIM:619714
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Hydrocephal...	ORPHA:95699
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Basal Cell Nevus Syndrome 1	Calcification of falx cerebri, Hydrocephalus, Spina bifida	OMIM:109400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Mucopolysaccharidosis Type 3	Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly	ORPHA:581
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Hypohidrosis, Subcortical cerebral atrophy, Cerebellar hy...	ORPHA:2273
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Cockayne Syndrome A	Anhidrosis, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Hypertension, Normal pre...	OMIM:216400
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis	OMIM:155145
Mitochondrial Dna-Associated Leigh Syndrome	Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, In...	ORPHA:255210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Microcephaly, Congestive heart failure, Hydrocephalus, Heart murmur, Dilata...	OMIM:619475
Monosomy 22Q13.3	Agenesis of corpus callosum, Hypohidrosis	ORPHA:48652
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Choreoacanthocytosis	Caudate atrophy, Abnormal putamen morphology, Dilated cardiomyopathy, Lateral ventricle dilatatio...	ORPHA:2388
Townes-Brocks Syndrome	Hypothyroidism, Patent ductus arteriosus, Tetralogy of Fallot, Agenesis of corpus callosum	ORPHA:857
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis	OMIM:162200
Fetal Akinesia Deformation Sequence 1	Absent septum pellucidum, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Cavum septum pellucidum	OMIM:208150
Mend Syndrome	Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he...	OMIM:229300
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Abnormality of the nose	ORPHA:2869
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Mitral regurgitation, Subcortical cerebral atr...	ORPHA:309282
Cockayne Syndrome B	Anhidrosis, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Hypertension, Normal pre...	OMIM:133540
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocephalus, Lissenceph...	ORPHA:3310
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis	ORPHA:538
Costello Syndrome	Hydrocephalus, Cerebral atrophy, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Lymp...	OMIM:218040
Lipoid Proteinosis	Nasal polyposis	ORPHA:530
Tuberous Sclerosis Complex	Cortical dysplasia, Internal hemorrhage, Noncommunicating hydrocephalus, Aortic aneurysm, Hyperte...	ORPHA:805
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Pulmonary arterial hypertension, Hydrocephalus, Bruising susceptibility	ORPHA:667
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy	OMIM:277410
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydrocephalus	OMIM:219000
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Microphthalmia With Limb Anomalies	Venous insufficiency, Hydrocephalus	ORPHA:1106
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Tetralogy of Fallot, Heart murmur, Cardiomyopathy, Ce...	OMIM:216340
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Abnormal midbrain morpho...	ORPHA:293987
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Hypoplasia of the corpus callosum, Hypert...	ORPHA:363700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Optic nerve hypoplasia, Microcephaly	OMIM:619321
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis	ORPHA:183
Roberts-Sc Phocomelia Syndrome	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Stillbirth	OMIM:268300
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal...	ORPHA:580
Neurofibromatosis Type 1	Hypertension, Hydrocephalus, Arterial stenosis	ORPHA:636
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Coffin-Siris Syndrome 12	Microcephaly, Noncommunicating hydrocephalus, Heart murmur, Hippocampal atrophy, Tetralogy of Fal...	OMIM:619325
Pmm2-Cdg	Pericarditis, Cerebellar vermis hypoplasia, Angina pectoris, Elevated circulating growth hormone ...	ORPHA:79318
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Dilatation of the sinus of Valsalva, Spina bifida	OMIM:304120
Townes-Brocks Syndrome 1	Microcephaly, Hydrocephalus, Holoprosencephaly, Tetralogy of Fallot, Hypothyroidism	OMIM:107480
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Peutz-Jeghers Syndrome	Nasal polyposis	OMIM:175200
Sarcoidosis	Abnormal nasal mucosa morphology, Hyperthyroidism, Hypothyroidism, Parotitis	ORPHA:797
Cystic Fibrosis	Nasal polyposis, Pancreatitis, Exocrine pancreatic insufficiency	OMIM:219700
Benign Schwannoma	Nasal polyposis	ORPHA:252164
Cystic Fibrosis	Nasal polyposis, Exocrine pancreatic insufficiency	ORPHA:586
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Co...	OMIM:601992

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 Casp9

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 Casp9.

No publications found that use IMPC mice or data for Casp9.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Casp9^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Casp9^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Casp9^{tm545(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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