| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern |
OMIM:615752 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Bradykinesia |
ORPHA:306669 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Lethargy, Ataxia |
ORPHA:73256 |
| Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Hydrocephalus, Lethargy |
ORPHA:26 |
| Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Dural Sinus Malformation |
|
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, A... |
ORPHA:97339 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
| +173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Stroke, CSF pleocytosis, Cerebral vasculitis, Intracranial hemorrhage, Abnormal CSF prote... |
ORPHA:140989 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Increased CSF lactate, Inability t... |
ORPHA:79243 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle |
OMIM:617296 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Intracranial hemorrhage |
ORPHA:398189 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Gait disturbance, Arteri... |
ORPHA:136 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Episodic ataxia |
ORPHA:420179 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation |
ORPHA:3078 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| 16P13.2 Microdeletion Syndrome |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Dystonia 31 |
|
Difficulty walking, Abnormal posturing |
OMIM:619565 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Meningocel... |
ORPHA:397715 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... |
OMIM:225790 |
| Pettigrew Syndrome |
|
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... |
ORPHA:90065 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... |
ORPHA:488627 |
| Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
| Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum |
ORPHA:544488 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
| Fried Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:85335 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... |
ORPHA:853 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein, Dysmetria, Ataxia |
OMIM:203450 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia |
ORPHA:488635 |
| Cach Syndrome |
|
Lateral ventricle dilatation, Dysmetria, Truncal ataxia, Limb ataxia |
ORPHA:135 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... |
ORPHA:572798 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
| Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Increased CSF lactate, Tip-toe gait, Lateral ventricle dilatation, Bradycardia |
ORPHA:565624 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Central Precocious Puberty |
|
Increased circulating gonadotropin level, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:759 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormality of the cerebrospinal fluid |
ORPHA:314404 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hydrocephalus |
OMIM:619470 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
| Huntington Disease-Like 1 |
|
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Ventriculomegaly, Abnormal posturing |
ORPHA:157941 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Truncal ataxia, Patent ductus art... |
OMIM:220220 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation |
ORPHA:178469 |
| Slc35A2-Cdg |
|
Lateral ventricle dilatation, Inability to walk, Tetralogy of Fallot, Dandy-Walker malformation |
ORPHA:356961 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Hydrocephalus |
OMIM:300884 |
| Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces |
ORPHA:2148 |
| Snakebite Envenomation |
|
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, ... |
ORPHA:449285 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Ventriculomegaly, Lethargy, Bradycardia |
OMIM:617397 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... |
ORPHA:280679 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Ventriculomegaly, Dandy-Walker malformation, Meningocele |
ORPHA:2481 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... |
ORPHA:300570 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle |
OMIM:619575 |
| Distal Monosomy 10Q |
|
Ataxia, Spina bifida occulta, Lateral ventricle dilatation, Patent ductus arteriosus, Unsteady gait |
ORPHA:96148 |
| Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... |
ORPHA:99828 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebral vascular morp... |
OMIM:300845 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Orthostatic hypotension, Gait disturbance, Lateral ventricle dilatation |
ORPHA:2822 |
| Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
| L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Ataxia, Unsteady gait |
ORPHA:457279 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
| Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage |
OMIM:182410 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Aicardi Syndrome |
|
Choroid plexus cyst, Dilated third ventricle, Partial agenesis of the corpus callosum, Spina bifi... |
OMIM:304050 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosu... |
OMIM:615287 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Gait disturbance, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Dilation of Virchow-Robin ... |
OMIM:619955 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subependymal nodules, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalu... |
ORPHA:25 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Cog5-Cdg |
|
Lateral ventricle dilatation, Truncal ataxia |
ORPHA:263487 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Medulloblastoma |
|
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Cerebella... |
ORPHA:616 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Hydrocephalus, Aortic regurgitation |
ORPHA:2181 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Lethargy |
OMIM:243500 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Coarctation of aorta, Agenesis of corpus callosum, Pulmonary artery... |
ORPHA:1692 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... |
ORPHA:624 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
| Superficial Siderosis |
|
Ataxia, Arteriovenous malformation, Persistent bleeding after trauma, Abnormality of the cerebros... |
ORPHA:247245 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Aqueductal stenosis, Ventriculomegaly |
OMIM:600907 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
| Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... |
ORPHA:494424 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Patent ductus arteriosus |
ORPHA:1516 |
| Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation |
OMIM:607361 |
| Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:276950 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
OMIM:273730 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy |
OMIM:207950 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Hydrocephalus, Steppage gait |
ORPHA:99947 |
| Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Athetosis, Second degree atrioventricular block, Hypertension, Pulmonary... |
ORPHA:369929 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Coarctation of aorta, Patent ductus arteriosus, Pulmonary arterial hypertension, Lethargy, Abnorm... |
OMIM:614857 |
| Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Dilated fourth ventricle, Dandy... |
ORPHA:434179 |
| Acys Amyloidosis |
|
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100008 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... |
ORPHA:464321 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100006 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Inability to walk, Gait ataxia, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616362 |
| Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:245200 |
| Williams-Beuren Region Duplication Syndrome |
|
Gait disturbance, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly |
OMIM:609757 |
| Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Ataxia, Hypertension, Encephalocele, Dandy-Walker malformation |
OMIM:614424 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
| Temple Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test |
ORPHA:254516 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased respon... |
ORPHA:91348 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation |
OMIM:611134 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
| Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Spastic gait, Hydrocephalus |
OMIM:249630 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Inability to walk, Tip-toe gait, Abnormal posturing |
ORPHA:216866 |
| Hydranencephaly |
|
Abnormal internal carotid artery morphology, Abnormal cerebral artery morphology, Ventriculomegal... |
ORPHA:2177 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit... |
ORPHA:177907 |
| Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Mirage Syndrome |
|
Hydrocephalus, Petechiae, Patent ductus arteriosus, Intracranial hemorrhage |
OMIM:617053 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Cardiomyopathy, Lethargy |
OMIM:606054 |
| Weiss-Kruszka Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:618619 |
| Arachnoid Cyst |
|
Hydrocephalus, Inability to walk, Holoprosencephaly, Subarachnoid hemorrhage, Gait disturbance, E... |
ORPHA:2356 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618476 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... |
ORPHA:2184 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Lethargy |
OMIM:251000 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Congestive heart failure |
OMIM:269920 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Arteriovenous malformation, Arrhythmia, Cerebral ische... |
ORPHA:60040 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased ... |
ORPHA:91350 |
| Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... |
ORPHA:324636 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly, Ataxia |
OMIM:619833 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy |
ORPHA:2701 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Arteriovenous malformation, Peripheral arteriovenous fistula, High-output congesti... |
ORPHA:137667 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Occipital e... |
ORPHA:370959 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Abnormal posturing |
ORPHA:225147 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Tetralogy... |
OMIM:220210 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Spi... |
ORPHA:1908 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Dilated cardiomyopathy, Ventriculomegaly, Antenatal intracerebral hemorrhage, Agenesi... |
OMIM:608836 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:90307 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
| Aspergillosis |
|
Intracranial hemorrhage, Stroke |
ORPHA:1163 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ataxia, Stroke, Gait disturbance, Ventriculomegaly, Lethargy |
ORPHA:395 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Ataxia, Aqueductal stenosis, Partial agenesis of the corpus call... |
ORPHA:1136 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Patent ductus arteriosus |
ORPHA:171839 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, P... |
ORPHA:79282 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage |
OMIM:241500 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hydrocephalus, Ventriculomegaly, Lethargy |
ORPHA:2169 |
| Wiskott-Aldrich Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Diabetic Embryopathy |
|
Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Transposition of the great arteries, Abnor... |
ORPHA:1926 |
| Hydrolethalus |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Arrhinencephaly |
ORPHA:2189 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Abnormal bleeding, Arrhythmia, Abnormal electrophysiology of sinoatrial node origi... |
ORPHA:398124 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... |
ORPHA:99901 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly |
ORPHA:59315 |
| Halperin-Birk Syndrome |
|
Inability to walk, Ventriculomegaly, Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpu... |
OMIM:618651 |
| Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Partial agenesis... |
OMIM:619895 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616482 |
| Tenorio Syndrome |
|
Hydrocephalus, Raynaud phenomenon, Syncope, Gait disturbance, Ventriculomegaly |
OMIM:616260 |
| Choreoacanthocytosis |
|
Loss of ambulation, Bradykinesia, Falls, Head titubation, Lateral ventricle dilatation, Dilated c... |
ORPHA:2388 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Abnormal common carotid artery morphology, Progressive ventriculomega... |
ORPHA:500150 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus, Ataxia, Petechiae, Cherry red spot of the macula, Dysmetria, Abnormal EKG, Telangi... |
ORPHA:93400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Holoprosencephaly 7 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef... |
OMIM:610828 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Increased CSF protein |
OMIM:272200 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Intracranial hemorrhage, Heart murmur, Patent ductus arteriosus, Interrupted aorti... |
ORPHA:163979 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly |
OMIM:617866 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Hydrocephalus, Vascular ring |
OMIM:603387 |
| Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... |
ORPHA:464329 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Hemorrhagic Fever-Renal Syndrome |
|
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... |
ORPHA:340 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Ataxia, Gait disturbance, Encephalocele, Agenesis of corpus callosum |
ORPHA:220497 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly |
OMIM:614576 |
| Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Vasculitis, Ventriculomegaly, Hypertension, Abnormal lateral ventricle morpho... |
ORPHA:1855 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Ao... |
ORPHA:109 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Coarctation of aorta, Patent ductus arteriosus, Ventriculomegaly, Colpocephaly, ... |
OMIM:617260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Griscelli Syndrome |
|
Hydrocephalus, Ataxia, Encephalocele |
ORPHA:381 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
| Adams-Oliver Syndrome |
|
Hydrocephalus, Arteriovenous malformation, Tetralogy of Fallot, Pulmonary artery atresia, Portal ... |
ORPHA:974 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Abnormal inferio... |
ORPHA:244 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
| Whipple Disease |
|
Hydrocephalus, Ataxia, Myocarditis, Hypotension, Myocardial infarction, Gastrointestinal hemorrha... |
ORPHA:3452 |
| Classic Homocystinuria |
|
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... |
ORPHA:394 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Dandy-Walker malformation |
OMIM:612938 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
| 3C Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Ventriculomegaly, D... |
ORPHA:7 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic atherosclerotic lesion, Mitral regurgitation, Intracranial hemorrha... |
ORPHA:363618 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Prominent superficial veins, Agenesis of corpus callosum, Bruising susceptibility |
OMIM:612940 |
| Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
| Emanuel Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Truncus arteriosus, Patent ductus arteri... |
ORPHA:96170 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hydrocephalus, Atrioventricular block, Supraventricular tachycard... |
ORPHA:137675 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Telangiectasia, Agenesis of corpus ... |
OMIM:612582 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Choreoathetosis, Ventriculomegaly, Ataxia |
OMIM:614969 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Ataxia, Gait disturbance, Encephalocele, Agenesis of corpus callosum |
ORPHA:220493 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing |
ORPHA:71272 |
| Joubert Syndrome |
|
Gait disturbance, Hydrocephalus, Ataxia, Encephalocele |
ORPHA:475 |
| 16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
| Craniopharyngioma |
|
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating ... |
ORPHA:54595 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly, Coarctation of aorta |
OMIM:300514 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Gait disturbance, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Lethargy |
ORPHA:79284 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:617822 |
| Menkes Disease |
|
Abnormal carotid artery morphology, Intracranial hemorrhage, Vascular dilatation, Arterial stenos... |
ORPHA:565 |
| Osteogenesis Imperfecta |
|
Loss of ambulation, Hydrocephalus, Ataxia, Cerebral hemorrhage, Bruising susceptibility, Arterial... |
ORPHA:666 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Tricuspid regurgitation, Patent ductus arteriosus, Agenesis of corpus callosum, Pe... |
OMIM:612863 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus |
OMIM:614886 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Stroke, Conjunctival telangiectasia, Pulmonary embolism, Abnormal cerebral vascula... |
ORPHA:3205 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Ataxia, Encephalocele |
ORPHA:2318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Encephalocele, Dandy-Wa... |
OMIM:614643 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
| Cockayne Syndrome Type 3 |
|
Stroke, Subdural hemorrhage, Premature coronary artery atherosclerosis, Retinal hemorrhage, Diffi... |
ORPHA:90324 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Difficulty walking, Arterial r... |
ORPHA:536545 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Hydrocephalus, Coarctation of aorta, Ventriculomegaly, Pulmonary arterial hyper... |
ORPHA:93932 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus |
ORPHA:8 |
| Tetrasomy 5P |
|
Hydrocephalus, Pulmonary arterial hypertension, Congestive heart failure, Heart murmur |
ORPHA:3309 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Encephalocele |
OMIM:613150 |
| Vici Syndrome |
|
Abnormal posturing, Agenesis of corpus callosum, Dilated cardiomyopathy, Cardiomyopathy, Congesti... |
OMIM:242840 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
| Popov-Chang syndrome |
|
Pulmonic stenosis, Hypertension, Hydrocephalus |
OMIM:618428 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Abnormal aortic arch morphology, Patent ductus arteriosus, ... |
ORPHA:2306 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time |
OMIM:619055 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Waddling gait, Hydranencephaly |
ORPHA:2839 |
| Meningioma |
|
Hydrocephalus, Ataxia, Cerebral hemorrhage, Syncope, Difficulty walking |
ORPHA:2495 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ataxia |
ORPHA:2720 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Venous insufficiency, Communicating hydrocephalus |
ORPHA:2969 |
| Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... |
ORPHA:63259 |
| Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Intracranial hemorrhage,... |
ORPHA:3260 |
| Acute Transverse Myelitis |
|
CSF pleocytosis, Orthostatic hypotension, Hypoglycorrhachia, Subarachnoid hemorrhage, Gait distur... |
ORPHA:139417 |
| Monosomy 18Q |
|
Hydrocephalus, Aortic valve stenosis, Left aortic arch with right descending aorta and right duct... |
ORPHA:1600 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy, Overridin... |
OMIM:309801 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Ventriculomegaly, Holoprosencephaly |
OMIM:612651 |
| Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Mitral stenosis, Carotid artery occlusion, Stroke, Aortic valve stenosis, Raynau... |
ORPHA:740 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hydrocephalus, Bruising susceptibility, Lateral ventricular asymmetry, Aortic root aneurysm, Hype... |
OMIM:616914 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus, Coarctation of aorta |
ORPHA:2409 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Dilation of Virchow-Robin spaces |
OMIM:619951 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary venous return, ... |
OMIM:602398 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Pulmonic stenosis, Dilated cardiomyopathy, Transposition of the... |
OMIM:253800 |
| Desmosterolosis |
|
Hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Ventriculomegaly, Age... |
ORPHA:35107 |
| Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Coarctation of aorta, Encephalocele, Agenesis of corpus callosum |
OMIM:264480 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Arteriosclerosis, Ataxia |
ORPHA:220295 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Aqueductal stenosis, Sudden cardiac death, Hypotension, Gait disturbance, ... |
ORPHA:58 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele |
OMIM:224400 |
| Hellp Syndrome |
|
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Dpagt1-Cdg |
|
Akinesia, Ataxia, Inability to walk, Intracranial hemorrhage, Prolonged QT interval, Stroke-like ... |
ORPHA:86309 |
| Dextrocardia |
|
Abnormal EKG, Hydrocephalus, Congenital malformation of the great arteries, T-wave inversion |
ORPHA:1666 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Patent ductus arteriosus, Bruising susceptibility |
OMIM:618162 |
| Trisomy 17P |
|
Aortic valve stenosis, Hydrocephalus, Patent ductus arteriosus |
ORPHA:261290 |
| Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Ataxia, Gait disturbance, Portal hypertension, Occipital encephalocele |
ORPHA:1454 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Alobar holoprosencephaly, Patent ductus arteriosus, Semilobar holo... |
OMIM:301043 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly, Encephalocele |
ORPHA:1335 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Inability to walk, Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery s... |
ORPHA:261552 |
| Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Inability to walk, Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery s... |
ORPHA:261537 |
| Distal Tetrasomy 15Q |
|
Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation |
ORPHA:314588 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Joubert Syndrome 2 |
|
Hydrocephalus, Ataxia, Enlarged fossa interpeduncularis, Encephalocele |
OMIM:608091 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Arrhythmia, Agenesis of corpus callosum, Ventriculomegaly, Heart block, Cardiomyop... |
ORPHA:228308 |
| Riddle Syndrome |
|
Ataxia, Intraventricular hemorrhage, Conjunctival telangiectasia, Gait disturbance, Telangiectasia |
ORPHA:420741 |
| Acute Liver Failure |
|
Ataxia, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, ... |
ORPHA:90062 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Athetosis |
OMIM:239300 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Hydrocephalus, Calcification of the aorta |
OMIM:231005 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Agenesis of corpus callosum, Ventr... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Agenesis of corpus callosum, Ventr... |
ORPHA:363958 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Retinal hemorrhage, Retinal arter... |
OMIM:175780 |
| Khan-Khan-Katsanis Syndrome |
|
Patent ductus arteriosus, Colpocephaly, Tricuspid regurgitation |
OMIM:618460 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Encephalocele |
ORPHA:1865 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Inability to walk, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral re... |
ORPHA:505248 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Right bundle branch block |
OMIM:618590 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hypertension, Ag... |
ORPHA:314585 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Cardiomyopathy, Communicating hydrocephalus |
OMIM:616084 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Ventriculomegaly, Meningoencephalocele, Occipital encephalocele, Agenesis of corpu... |
OMIM:236670 |
| Vacterl With Hydrocephalus |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly |
ORPHA:3412 |
| Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Tetralogy of Fallot, Agenesis of corpus callosum, Communicat... |
ORPHA:1780 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus, Arrhythmia, Agenesis of corpus callosum |
ORPHA:157 |
| 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Dysmetria, Patent ductus arteriosus, Ventriculomegaly, Unst... |
ORPHA:96121 |
