Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adhesion G protein-coupled receptor A2
Synonyms:
9530074E10Rik,  Tem5,  Gpr124,  8430414O08Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Adgra2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Adgra2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage ORPHA:401986
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral amyloid angiopathy, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage ORPHA:98880
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Acys Amyloidosis
Stroke, Cerebral amyloid angiopathy, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Brain Small Vessel Disease 2
Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Bradycardia, Cerebral hemorrhage, Pate... OMIM:617397
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Death in childhood, Death in infancy, Neonatal death, Death in adolescence... OMIM:619055
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Intraventricular hemorrhage OMIM:616430
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Neurocutaneous Melanocytosis
Ventriculomegaly, Death in infancy, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation ORPHA:2481
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra... ORPHA:140989
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Death in infancy OMIM:618266
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Death in infancy, Agenesis of corpus call... OMIM:619302
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub... OMIM:618291
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Death in infancy, Agenesis of corpus callosum OMIM:619301
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Death in childhood, Death in infancy, Increased CSF lysi... OMIM:616034
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Alexander Disease
Increased CSF protein concentration, Death in childhood, Death in infancy, Death in adolescence, ... OMIM:203450
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, Cerebral isch... ORPHA:137667
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Neonatal death, Bradycardia, Decreased CSF glutamine concentration,... OMIM:610015
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Ventriculomegaly, Absent uvula OMIM:616531
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Agenesis of corpus callo... ORPHA:2919
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation OMIM:618330
Microphthalmia, Syndromic 12
Intestinal malrotation, Pulmonary hypoplasia, Cleft palate, Neonatal death OMIM:615524
Pseudo-Torch Syndrome 3
Hypertension, Death in infancy, Cerebral hemorrhage OMIM:618886
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly... OMIM:192445
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Death in infancy OMIM:617668
Kleeblattschaedel
Hydrocephalus OMIM:148800
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Intraventricular hemorrhage, Aorti... ORPHA:363958
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation ORPHA:2631
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductu... OMIM:220220
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Medial calc... OMIM:177850
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Elevated CSF D-2-hydroxygluta... OMIM:600721
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callosum, Esophag... OMIM:618779
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia ORPHA:420741
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Death in infancy, Agenesis of corpus callosum, Arrhythm... OMIM:608836
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tricuspid regurgitation, ... OMIM:620371
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Median cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate... OMIM:241800
Melanosis, Neurocutaneous
Choroid plexus papilloma, Dandy-Walker malformation, Hydrocephalus, Death in infancy OMIM:249400
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Fried Syndrome
Hydrocephalus ORPHA:85335
Infantile Sialic Acid Storage Disease
Hydrocephalus, Death in childhood, Congestive heart failure OMIM:269920
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus, Death in childhood OMIM:610333
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy OMIM:613155
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Subdural hemorrhage, Death in childhood, Cerebral hemorrhage OMIM:620278
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Microcephaly, Cleft palate, Submucous cleft hard palate ORPHA:2521
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhage, Communicating hy... ORPHA:25
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Death in infancy OMIM:615368
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Venous malformati... ORPHA:90307
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Hydrocephalus, Patent ductus arteriosus OMIM:617053
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Death in childhood, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker ma... OMIM:613153
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Amish Lethal Microcephaly
Ventriculomegaly, Cleft soft palate, Death in infancy, Agenesis of corpus callosum, Microcephaly ORPHA:99742
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, High palate, Dental crowding, Stillbirth OMIM:617468
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Dandy-Walker malformation, Pulmonary hypoplasia ORPHA:3032
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth OMIM:241500
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly, Cleft soft palate, Thin upper lip vermilion, Primary microcephaly, Pierre-Robin... OMIM:620183
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Colpocephaly, Ventriculomegaly, Agenesis of corpus cal... OMIM:618619
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Hydranencephaly
Ventriculomegaly, Dilatation of the ventricular cavity, Abnormal internal carotid artery morpholo... ORPHA:2177
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Patent ductus arteriosus, Lateral ventricle dilatation OMIM:617751
Pontocerebellar Hypoplasia, Type 13
Volvulus, Lateral ventricle dilatation, Recurrent respiratory infections, Thick upper lip vermili... OMIM:618606
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Arteriovenous malformation, Cerebral ischemia, Arrhythmia, Telangiectasia of th... ORPHA:60040
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Microcephaly, Arrhythmia, Hypodontia, Glossoptosis ORPHA:3201
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage ORPHA:284227
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Cleft Soft Palate
Cleft soft palate OMIM:119570
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Lateral ventricle dilatation, Long philtrum, Anteriorly placed anus, Tricusp... OMIM:612863
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Atelosteogenesis, Type Ii
Death in infancy, Pulmonary hypoplasia, Cleft palate, Stillbirth OMIM:256050
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Death in childhood, Hydrocephalus, Patent ductus arteriosus, Dandy-W... OMIM:612938
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Mitral stenosis, Agenesis of corpus callosum, Colpocephaly, Coarctation of aort... OMIM:617260
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Alg3-Cdg
Cardiomyopathy, Microcephaly, Macroglossia, High palate, Abnormal uvula morphology, Dandy-Walker ... ORPHA:79321
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus ORPHA:93274
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Microcephaly, Bifid uvula, Pulmonic stenosis OMIM:619239
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Peripheral pulmonary artery stenosis, Delayed er... ORPHA:2712
Spondyloenchondrodysplasia
Vasculitis, Ventriculomegaly, Abnormal lateral ventricle morphology, Raynaud phenomenon, Hyperten... ORPHA:1855
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus, Death in infancy OMIM:147800
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper li... OMIM:612530
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... OMIM:300952
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Narrow mouth, Agenesis of corpus callosum, Cleft palate, Pulmonary hypopl... OMIM:202650
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Death in childhood, Agenesis of corpus callosum, C... OMIM:618651
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Aspergillosis
Stroke, Intracranial hemorrhage ORPHA:1163
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Microcephaly, Th... OMIM:617412
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Narrow mouth, Mic... OMIM:300978
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Mitral regurgitation, Vascular ring OMIM:603387
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Agenesis of ... ORPHA:370959
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Abnormal electrophysiology of ... ORPHA:398124
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Cleft soft palate, Smooth philtrum, Choroid plexus cyst, Primary mi... ORPHA:293725
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Hydrocephalus, Dandy-W... OMIM:220210
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Agenesis of corpus callosum, Colpocephaly, Pulmonary artery atresia, Partial agenesis of the corp... OMIM:620113
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Double Outlet Right Ventricle
Pulmonary artery atresia, Intestinal malrotation, Heart murmur, Narrow mouth, Submucous cleft har... ORPHA:3426
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus OMIM:609757
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Thanatophoric Dysplasia
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus ORPHA:2655
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Agenesis of corpu... ORPHA:2189
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:171839
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Lateral ventricle dilatation OMIM:619995
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage OMIM:185070
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Abnormal bleeding, Death in infancy, Hydrocephalus, Patent ductus arteriosus OMIM:614576
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Superficial Siderosis
Increased CSF protein concentration, Abnormal bleeding, Arteriovenous malformation, Abnormal vert... ORPHA:247245
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Hec Syndrome
Arrhythmia, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Dilated cardiomyopathy, Mitral regurgitation ORPHA:261250
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Renal Tubular Dysgenesis
Microcephaly, Pulmonary hypoplasia ORPHA:3033
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation ORPHA:2148
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventriculomegaly, Unilateral cleft lip, Hypertrophic cardiomyopathy, Pleural effusion, Microcepha... OMIM:616897
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Lateral ventricle dilatation, Bradycardia ORPHA:565624
Bresek Syndrome
Hydrocephalus, Neonatal death ORPHA:85284
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Gingival over... OMIM:619148
Tetrasomy 15Q26
Hypoplastic aortic arch, Dandy-Walker malformation, Hydrocephalus, Patent ductus arteriosus OMIM:614846
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Microcephaly, Pneumothorax, Recurrent respiratory infection... ORPHA:2257
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Encephalocele, Hydrocephalus, Pulmonary artery atresia, M... ORPHA:1908
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Long philtrum, Narrow mouth, Agenesis of corpus callos... OMIM:248700
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Neonatal death OMIM:311900
Meningioma
Syncope, Hydrocephalus, Cerebral hemorrhage ORPHA:2495
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Agenesis of corpus callosum, Telangiectasia, Hydrocephalus, Patent ductus ar... OMIM:612582
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Congestive heart failure, Narrow mouth, High palate, Patent ductus arteriosus, Pu... OMIM:616866
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malfo... OMIM:225790
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Recurrent respiratory infections, Intestinal malrotation, Exaggerated cupid's bow,... OMIM:618316
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Death in infancy, Coarctation of aorta, Hydrocephalus, Patent ductus arteriosus OMIM:300514
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Ventriculomegaly, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous ... OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Retinal telangiectasia OMIM:620157
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate, Microcephaly, Pulmonary arterial hypertension, Re... ORPHA:2282
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Ventriculomegaly, Aortic root aneurysm, Aortic dissect... ORPHA:666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Persistent left superior vena cava, Transposition of the great arteries, Hydrocephalus, Neonatal ... OMIM:314390
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Death in childhood OMIM:619847
Serkal Syndrome
Malrotation of small bowel, Orofacial cleft, Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Arrhyth... OMIM:309801
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Aortic aneurysm, Cerebral hemorrh... ORPHA:536545
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Noonan Syndrome 14
Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom... OMIM:619745
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Patent ductus arterios... ORPHA:90308
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Congenital Myopathy 1B, Autosomal Recessive
High palate, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia OMIM:313850
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus OMIM:243440
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Desmosterolosis
Bifid uvula, Ventriculomegaly, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate,... ORPHA:35107
Fryns Syndrome
Ventriculomegaly, Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotation, Tent... ORPHA:2059
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Vascular tortuosity, Agenesis of corpus callosum, Prominent superficial ... OMIM:612940
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Microcephaly-Micromelia Syndrome
Narrow mouth, Neonatal death, Microcephaly, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia OMIM:251230
Tetrasomy 5P
Long philtrum, Congestive heart failure, Recurrent respiratory infections, Pulmonary arterial hyp... ORPHA:3309
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Dysplastic corpus c... OMIM:619103
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Agenesis of corpus callosum OMIM:614402
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
3C Syndrome
Aortic valve stenosis, Ventriculomegaly, Tetralogy of Fallot, Death in infancy, Hydrocephalus, Da... ORPHA:7
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hypertension, Hydrocephalus ORPHA:2169
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly, Syncope, Raynaud phenomenon OMIM:616260
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Hydrocephalus, Dandy-Walker malforma... OMIM:609029
Buratti-Harel Syndrome
Bifid uvula, Recurrent pneumonia, Velopharyngeal insufficiency, Submucous cleft hard palate, High... OMIM:619314
Temple Syndrome
Hydrocephalus ORPHA:254516
Slc35A2-Cdg
Tetralogy of Fallot, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Truncus arteriosus, S... OMIM:615415
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Agenesis of corpu... ORPHA:42775
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aortic aneu... ORPHA:109
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the great ar... ORPHA:1926
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Portal hypertension... ORPHA:974
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Death in infancy, Agenesis o... OMIM:614866
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle di... OMIM:619575
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Microcephaly, Thick vermilion bo... OMIM:618106
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Cardiomyopathy ORPHA:572798
Congenital Sialidosis Type 2
Cherry red spot of the macula, Abnormal EKG, Petechiae, Telangiectasia, Hydrocephalus ORPHA:93400
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Death in infancy, Microdontia,... OMIM:259775
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Sturge-Weber Syndrome
Pulmonary embolism, Abnormal cerebral vascular morphology, Conjunctival telangiectasia, Stroke, H... ORPHA:3205
Hemangioblastoma
Hydrocephalus ORPHA:252054
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Palpitations, Mitral stenosis, Pulmonary sequestrati... ORPHA:2847
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ve... ORPHA:544488
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpoc... OMIM:618460
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Agenesis of corpus callosum, Truncus arteriosus, Hydroce... ORPHA:96170
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Vascular dilatation, Hydrocephalus OMIM:219730
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Death in infancy, Lateral ventricle dilatation, Death in childhood OMIM:612301
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce... OMIM:613686
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Death in infancy ORPHA:163966
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Narrow mouth, Microcephaly, Hydrocephalus, Cleft palate, Miscarriage ORPHA:1865
Fetal Akinesia Deformation Sequence
Dandy-Walker malformation, Cleft palate, Intestinal hypoplasia, Pulmonary hypoplasia ORPHA:994
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Agenesis of permanent teeth, Short lingual frenulum, Microdontia, Fused teeth, High ... OMIM:614091
Trisomy 1Q
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum ORPHA:261344
Walker-Warburg Syndrome
Bifid uvula, Ventriculomegaly, Submucous cleft hard palate, Agenesis of corpus callosum, Microcep... ORPHA:899
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Death in infancy, Recurrent ... OMIM:184260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper ... OMIM:616300
Schilbach-Rott Syndrome
Bifid uvula, Microcephaly, Narrow mouth, Submucous cleft hard palate OMIM:164220
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Myocarditis, Myocardial infarction, Peri... ORPHA:3452
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Conot... ORPHA:2306
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,... OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Agenesis of corpus callosum, Transposition of the great ar... OMIM:253800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Microcephaly, Pulmonary hypoplasia, Narrow mouth, Neonatal death OMIM:224410
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Mitral regurgitation, Hiatus hernia, ... OMIM:615582
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Cleft lip, Bilateral lung agenesis, Pulmonary artery st... OMIM:611812
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death OMIM:187600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus OMIM:614886
Achondrogenesis Type 2
Pulmonary hypoplasia, Pierre-Robin sequence ORPHA:93296
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Scimitar Syndrome
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Bronchogenic cyst, Abnormal lung morphology, C... ORPHA:185
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Neonatal death, Normal pressure hydrocephalus, Bradycardia OMIM:620351
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia OMIM:616733
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Cleft palate, Pulmonary hypoplasia OMIM:312150
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Portal hypertension, Hypertension, Increased blood pressure, Perica... OMIM:619487
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:261290
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Double outlet right ventricle, Hydrocephalus, Aqueduc... OMIM:619895
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Gillessen-Kaesbach-Nishimura Syndrome
Microcephaly, Pulmonary hypoplasia, Smooth philtrum, Abnormal lung lobation OMIM:263210
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Juvenile Polyposis Syndrome
Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Ju... ORPHA:2929
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Death in infancy, Death in childhood, Hydrocephalus, Partial age... OMIM:614643
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus ORPHA:1860
Meckel Syndrome, Type 6
Cleft upper lip, Bilobed right lung, Hydrocephalus, Cleft palate, Pulmonary hypoplasia OMIM:612284
Crouzon Syndrome
Hydrocephalus ORPHA:207
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Arachnoiditis
Hydrocephalus ORPHA:137817
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Temple Syndrome
Hydrocephalus OMIM:616222
Neu-Laxova Syndrome
</