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 |