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Gene: Adgra2 MGI:1925810

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly 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
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:604213
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Br... OMIM:617397
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Increased CSF lactate, Prolo... OMIM:619055
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pineocytoma
Hydrocephalus, Increased CSF protein concentration 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
Intraventricular hemorrhage, Ventriculomegaly OMIM:616430
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
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
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Ventriculomegaly ORPHA:2481
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Lateral ventricle dilatation OMIM:618266
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydroceph... OMIM:619302
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... ORPHA:465
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... OMIM:618291
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concen... OMIM:616034
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Alexander Disease
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... OMIM:203450
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Neonatal death, Decreased CSF glut... OMIM:610015
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Fetal Gaucher Disease
Intracranial hemorrhage, Death in infancy, Stillbirth, Neonatal death ORPHA:85212
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation OMIM:618330
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Lateral ventricle dilatation OMIM:617668
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Death in infancy OMIM:618886
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus OMIM:300886
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... OMIM:614096
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly, Pulmonary hypoplasia, Absent uvula OMIM:616531
Kleeblattschaedel
Hydrocephalus OMIM:148800
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363958
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
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
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia, Intestinal malrotation, Cleft palate OMIM:615524
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia, Agenesi... OMIM:608836
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen... OMIM:618779
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate ORPHA:2631
Fried Syndrome
Hydrocephalus ORPHA:85335
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly, Death in childhood OMIM:610333
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus, Death in childhood OMIM:269920
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Lateral ventricle dilatation, Subependymal cysts OMIM:600721
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:304100
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Subdural hemorrhage, Cerebral hemorrhage, Death in childhood OMIM:620278
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate, Microcephaly ORPHA:2521
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Pallister-Hall-Like Syndrome
Death in infancy, Median cleft lip, Microcephaly, Hydrocephalus, Cleft palate, Pulmonary hypoplas... OMIM:241800
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Lethal Congenital Contracture Syndrome 5
Death in infancy, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Dandy-Walker malformation, Agenesis of corpus callosum, Ventri... OMIM:613153
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Hydrocephalus, Petechiae OMIM:617053
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth OMIM:241500
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:218350
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Ventric... OMIM:620183
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly ORPHA:99742
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Dextrotransposition of the great art... OMIM:618619
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus ORPHA:163596
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn... ORPHA:79243
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Patent ductus arteriosus, Lateral ventricle dilatation OMIM:617751
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:620156
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia, Arrhythmia ORPHA:3201
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Recurrent respiratory infections, Macrodontia, Microcephaly, Pleural ef... OMIM:618606
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Stillbirth, Dental crowding, Pulmonary hypoplasia OMIM:617468
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Death in childhood, Hypertrophic cardiomyopathy, Dandy-W... OMIM:612938
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Intestinal malrotation, Dandy-Walker malformation ORPHA:3032
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Agenesis of corpus... OMIM:617260
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Ventriculome... ORPHA:1855
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis, Microcephaly OMIM:619239
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... ORPHA:2712
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Cleft Soft Palate
Cleft soft palate OMIM:119570
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Halperin-Birk Syndrome
Colpocephaly, Death in childhood, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopr... OMIM:618651
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Brachycephaly, Trichomegaly, And Developmental Delay
Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v... OMIM:617412
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Ventriculomegaly, Vascular ring OMIM:603387
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Pulmonary artery... OMIM:620113
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aortic valve stenosis, Tetralogy... OMIM:220210
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Agenesis of cor... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Interrupted aorti... ORPHA:163979
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:609757
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Cleft palate OMIM:256050
Alg3-Cdg
Microcephaly, Macroglossia, Cardiomyopathy, High palate, Pulmonary hypoplasia, Abnormal uvula mor... ORPHA:79321
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Primary mic... ORPHA:293725
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:171839
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:2655
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Double Outlet Right Ventricle
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Heart murmur, Pul... ORPHA:3426
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries OMIM:619995
Hydrolethalus
Hydrocephalus, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, A... ORPHA:2189
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Death in infancy, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:614576
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Microcephaly, Deep philtru... OMIM:612530
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventriculomegaly, Colpocephaly ORPHA:261250
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... ORPHA:247245
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Bradycardia, Increased CSF lactate ORPHA:565624
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal... OMIM:613154
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Microglossia, Agenesis of corpus call... OMIM:202650
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... ORPHA:1908
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Meningioma
Hydrocephalus, Syncope, Cerebral hemorrhage ORPHA:2495
Tonne-Kalscheuer Syndrome
Microcephaly, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Pul... OMIM:300978
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Tetralogy of Fallot, Agenesis of corpus ... OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Retinal telangiectasia OMIM:620157
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Ventriculomegaly OMIM:300514
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus, Persistent left superior vena cava, Transposition of the great art... OMIM:314390
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Death in childhood OMIM:619847
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventriculomegaly, Intestinal malrotation, Microcephaly, Velopharyngeal ... OMIM:614701
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... OMIM:309801
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Pulmonary hypoplasia, Cleft palate ORPHA:250999
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Aortic ... ORPHA:666
Noonan Syndrome 14
Aortic regurgitation, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrophic cardiomyopath... OMIM:619745
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Cleft soft palate, Microcephaly, Patent ductus arteriosus, Subm... ORPHA:2282
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... OMIM:618529
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Microcephaly, Cleft l... OMIM:619148
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
3C Syndrome
Death in infancy, Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Tetr... ORPHA:7
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Thick lower li... OMIM:619103
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary... ORPHA:79282
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Cleft palate, Cleft upper lip OMIM:614402
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly OMIM:616260
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis,... OMIM:609029
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Desmosterolosis
Intestinal malrotation, Microcephaly, Patent ductus arteriosus, Submucous cleft hard palate, Hydr... ORPHA:35107
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension OMIM:616482
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... ORPHA:464329
Temple Syndrome
Hydrocephalus ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the great arteries... ORPHA:1926
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal... ORPHA:974
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:2169
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Microcephaly ORPHA:3033
Slc35A2-Cdg
Lateral ventricle dilatation, Tetralogy of Fallot, Dandy-Walker malformation ORPHA:356961
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Heart murmur, Death in adolescen... OMIM:614866
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Marden-Walker Syndrome
Microcephaly, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Pulmonary hypopla... OMIM:248700
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Wide mouth, High p... OMIM:618106
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... OMIM:619314
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpocephaly, Bilateral ... OMIM:618460
Hemangioblastoma
Hydrocephalus ORPHA:252054
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Bruising susceptibility, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Microcephaly, Cleft palate, Pleural effusion, Unilateral cleft lip, Pulmonary hypoplasia, Hypertr... OMIM:616897
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ventricle, Peripheral pu... OMIM:619575
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Vascular dilatation OMIM:219730
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood OMIM:612301
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis,... ORPHA:96170
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hydrocephalus ORPHA:163966
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilation of Vi... ORPHA:544488
Trisomy 1Q
Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly ORPHA:261344
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy, High palate, Pulmonary hypopl... OMIM:616866
Serkal Syndrome
Malrotation of small bowel, Pulmonic stenosis, Pulmonary hypoplasia, Orofacial cleft ORPHA:139466
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow, Intestinal m... OMIM:618316
Thoracoabdominal Syndrome
Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Cleft palate, Pulmonary hypoplasia OMIM:313850
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Pulmonary hypoplasia OMIM:255320
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp... ORPHA:3452
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet right ventricle, ... OMIM:301043
Fryns Syndrome
Ventriculomegaly, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal... ORPHA:2059
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Walker-Warburg Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Agenesi... ORPHA:899
Schilbach-Rott Syndrome
Microcephaly, Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Microcephaly, Carious teeth, Cleft lip, Patent ductus arteriosu... OMIM:117650
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha... OMIM:613686
Microcephaly-Micromelia Syndrome
Microcephaly, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Neonatal death OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Transposition of the gre... OMIM:253800
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Microcephaly, Pneumothorax, Cleft palate, Abnormal pulmonary ar... ORPHA:2257
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr... OMIM:619487
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Abnormal lung lobation, Stillbirth, Aortic valve stenosis, Pulmonary hypoplas... OMIM:615415
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c... OMIM:619895
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:1860
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hydrocephalus ORPHA:261290
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Bradycardia, Normal pressure hydrocephalus OMIM:620351
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
Encephalocele, Death in infancy, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydro... OMIM:614643
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... ORPHA:2306
Crouzon Syndrome
Hydrocephalus ORPHA:207
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Arachnoiditis
Hydrocephalus ORPHA:137817
Temple Syndrome
Hydrocephalus OMIM:616222
Raine Syndrome
Natal tooth, Death in infancy, Protruding tongue, Microcephaly, Hydrocephalus, Gingival overgrowt... OMIM:259775
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Patent ductus arteriosus, Palpitations, Pulmonary hypoplasia, Pulmonary s... ORPHA:2847
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus, Anomalous pulmonary venous return, Transposition of the great ar... ORPHA:244
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... OMIM:261740
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Dandy-Walker malformation, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus,... OMIM:616300
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries ORPHA:1666
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Left superior vena cava draining to coronary sinus, Pulmonary arter... ORPHA:464738
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... OMIM:614091
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Dandy-Walker malformation, Pulmonary hypoplasia, Cleft palate ORPHA:994
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lateral ventricle dilatation ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Microcephaly, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Narrow mouth ORPHA:1865
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Neu-Laxova Syndrome
Ventriculomegaly, Abnormality of the philtrum, Microcephaly, Submucous cleft hard palate, Cleft p... ORPHA:2671
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Microcepha... OMIM:608670
Distal Deletion 10Q
Patent ductus arteriosus, Spina bifida occulta, Lateral ventricle dilatation ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia... OMIM:611812
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Arthrogryposis, Distal, Type 3
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate OMIM:114300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... OMIM:616914
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus OMIM:602361
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Submucous cleft hard palate, Aortic valve stenosis, Mitral stenosis, Bifid uvula OMIM:617660
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Total anomalous... OMIM:602398
Odontochondrodysplasia 1
Delayed eruption of teeth, Death in infancy, Recurrent respiratory infections, Pulmonary hypoplas... OMIM:184260
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Monosomy 18Q
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... ORPHA:1600
Gorlin Syndrome
Hydrocephalus ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Recurrent respiratory infections, Cleft soft palate, Microcep... OMIM:619950
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Microcephaly, Pulmonary hypoplasia, Narrow mouth OMIM:224410
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Death in adolescence OMIM:619229
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum, Ventriculome... ORPHA:228308
Velocardiofacial Syndrome
Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, C... OMIM:192430
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum, Hydrocephalus ORPHA:157
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Median cleft lip, Abnormal oral mucosa morphology, Microcephaly... ORPHA:2753
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Aortic... ORPHA:2780
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Cleft palate, Cleft upper lip OMIM:312150
8Q22.1 Microdeletion Syndrome
Microcephaly, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia OMIM:616733
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Achondrogenesis Type 2
Pierre-Robin sequence, Pulmonary hypoplasia ORPHA:93296
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Bilobed right lung, Cleft palate, Pulmonary hypoplasia OMIM:612284
Muenke Syndrome
Hydrocephalus ORPHA:53271
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Ventriculomegaly ORPHA:395
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Hurler Syndrome
Death in infancy, Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension ORPHA:93473
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Peripheral pulmonary arter... OMIM:613001
Mosaic Trisomy 1
Pulmonary artery atresia, Lateral ventricle dilatation, Agenesis of corpus callosum, Coarctation ... ORPHA:1692
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Smooth philtrum, Microcephaly OMIM:263210
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Scimitar Syndrome
Recurrent respiratory infections, Left-to-right shunt, Heart block, Congestive heart failure, Pat... ORPHA:185
Apert Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Patent d... OMIM:300990
Rabin-Pappas Syndrome
Hydrocephalus, Retinal telangiectasia OMIM:620155
Weaver Syndrome
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation OMIM:277590
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Fg Syndrome Type 1
Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly, Coarctation of aorta ORPHA:93932
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
W Syndrome
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Proteus-Like Syndrome
Venous insufficiency, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate, Microcephaly OMIM:619680
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Lateral ventricle dilata... ORPHA:457279
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Coarctation of aorta, H... OMIM:210710
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation ORPHA:2140
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip OMIM:619122
Bainbridge-Ropers Syndrome
Death in infancy, Lateral ventricle dilatation OMIM:615485
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus OMIM:618590
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Bruising susceptibility, Hydrocephalus OMIM:618162
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Pate... OMIM:301068
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Smith-Lemli-Opitz Syndrome
Death in infancy, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Hydrocephalu... OMIM:270400
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Stickler Syndrome, Type I
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:108300
Pentalogy Of Cantrell
Non-midline cleft lip, Hydrocephalus, Cleft palate, Orofacial cleft, Pulmonary hypoplasia ORPHA:1335
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Patent ductus ar... ORPHA:99050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:257300
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Microcephaly, Everted lower lip vermilion, Pulmonary hypoplasia, Nar... OMIM:608013
Lowry-Maclean Syndrome
Hydrocephalus, Coarctation of aorta ORPHA:2409
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Agenesis of ... ORPHA:58
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hydrocephalus OMIM:309900
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, High palate, Microcephaly OMIM:222765
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Hydrocephalus ORPHA:1555
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... ORPHA:90324
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Intestinal malrotation OMIM:601163
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Aortopulmonary collateral arteries OMIM:617557
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Kagami-Ogata Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Long philtrum, Pulmonary arter... OMIM:608149
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephaly, Neonatal death OMIM:269860
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate ORPHA:85166
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Interrupted aortic arch ORPHA:250989
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Aortic aneurysm OMIM:130720
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus OMIM:104350
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Patent ductus arteriosus, Tetralogy of Fallot, Lateral ventricle dilata... OMIM:619869
Congenital Myopathy 17
Tented upper lip vermilion, Respiratory tract infection, Dental malocclusion, Cleft palate, High ... OMIM:618975
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi... ORPHA:139417
H Syndrome
Varicose veins, Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia ORPHA:168569
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Hydroce... ORPHA:505248
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension, Microcephaly OMIM:267430
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... ORPHA:980
Renal Agenesis, Bilateral
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Pu... ORPHA:1848
Myhre Syndrome
Submucous cleft hard palate, Cleft palate, Gingival cleft, Hypertension, Abnormal lip morphology,... ORPHA:2588
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Recurrent respiratory infections, Microcephaly, Carious teeth, Patent d... ORPHA:177907
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Ventriculomegaly OMIM:618188
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Left ventricular noncompaction cardiomyopathy, High, narrow palate, Patent ductu... OMIM:300967
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Patent ductus arteriosus, Cleft palate, Thin vermilion border, High palate, Pulmon... OMIM:614080
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... OMIM:115150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mitral regurgitation, Patent ductus arteriosus, Tricuspid regurgitation, Cleft soft palate OMIM:614557
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Cervical myelopathy... OMIM:253200
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Abnormality of the dentition, Dysplastic corpus c... OMIM:617140
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Cleft palate OMIM:253290
Native American Myopathy
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, Orofacial cl... ORPHA:958
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Hydrocephalus OMIM:607014
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Cleft pal... OMIM:263520
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t... ORPHA:1780
Caudal Regression Syndrome
Anal atresia, Hypertension, Pulmonary hypoplasia, Orofacial cleft ORPHA:3027
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Mucopolysaccharidosis Type 1
Congestive heart failure, Hypertrophic cardiomyopathy, Hydrocephalus ORPHA:579
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Myelomeningocele, Double ... OMIM:306955
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Microcephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodena... OMIM:619227
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, High, narrow palate, Patent ductus arteriosus, Subependymal cysts, Macroglossi... OMIM:214100
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Portal hypertension ORPHA:1454
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3035
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Microcephaly, Hydrocephalus, Downturned corners of mou... OMIM:619321
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:618820
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Patent ductus arteriosus, Lateral ventricle dilatation OMIM:300868
Marshall-Smith Syndrome
Patent ductus arteriosus, Hydrocephalus, Premature ventricular contraction, Hypertension, Death i... OMIM:602535
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Achondroplasia
Hydrocephalus ORPHA:15
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Bilateral ... OMIM:601186
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Thin upper lip vermilion, Recurrent respiratory infections, Cerebral arteriove... OMIM:150230
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Nephronophthisis 2
Hypertension, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:602088
Lethal Congenital Contracture Syndrome 10
Narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Long philtrum OMIM:617022
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Pulmonary hypoplasia, Neonatal ... OMIM:263200
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm... ORPHA:228123
Meacham Syndrome
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Scimitar a... OMIM:608978
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, ... OMIM:616546
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Hydrocephalus OMIM:253220
Achondroplasia
Death in infancy, Hydrocephalus OMIM:100800
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Pulmonary hypoplasia, Long philtrum OMIM:145420
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Meier-Gorlin Syndrome 5
Microcephaly, Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly OMIM:612651
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... OMIM:304050
Crouzon Syndrome
Hydrocephalus OMIM:123500
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Autosomal Recessive Multiple Pterygium Syndrome
Microcephaly, Abnormality of the tongue, Cleft palate, Orofacial cleft, High palate, Pulmonary hy... ORPHA:2990
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... OMIM:609192
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Ventriculomegaly, Transient ischemic attack, Unilateral lung agenes... ORPHA:500150
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Partial agenesis of the corpus callosum, H... OMIM:619512
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
Branchioskeletogenital Syndrome
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Microcephaly, Submucous cle... ORPHA:1299
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure OMIM:181270
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Patent ductus arteriosus, ... ORPHA:353277
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Cleft soft palate, Microcephaly, Pyloric stenosis, Supernumerary tooth, Wid... ORPHA:268261
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Long philtrum OMIM:617895
Aymé-Gripp Syndrome
Patent ductus arteriosus, Hydrocephalus, Pericarditis, Ventriculomegaly ORPHA:1272
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Bruising susceptibility, Agenesis of corpus callosum, Hydrocephalus OMIM:227646
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Meier-Gorlin Syndrome 7
Anal stenosis, Heart block, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Second degre... OMIM:617063
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus, Heart murmur, Tetralogy of Fallot, Agenesis of corpus c... ORPHA:264450
Fryns Syndrome
Dandy-Walker malformation, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotat... OMIM:229850
Otopalatodigital Syndrome Type 2
Hydrocephalus, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Pulmonary hypoplas... ORPHA:90652
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Dysplastic corpus callosum, Ventriculomegaly OMIM:613406
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Neu-Laxova Syndrome 1
Ventriculomegaly, Cleft upper lip, Swollen lip, Patent ductus arteriosus, Thick lower lip vermili... OMIM:256520
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Neurooculorenal Syndrome
Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephalus, Tetralogy of Fallot ... OMIM:620305
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Agenesis of corpu... OMIM:236670
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Dilated fourth ventricle, Ventriculomegal... OMIM:249000
Renal-Hepatic-Pancreatic Dysplasia 1
Intestinal malrotation, Portal hypertension, Patent ductus arteriosus, Pulmonary hypoplasia, Neon... OMIM:208540
Genitopatellar Syndrome
Delayed eruption of teeth, Microcephaly, Pulmonary hypoplasia, Long philtrum, Agenesis of corpus ... ORPHA:85201
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Ventriculomegaly OMIM:620306
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Ventriculomegaly, Aortic aneurysm ORPHA:96121
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic root aneurysm, ... ORPHA:536467
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Death in infancy, Tricuspid regurgitation, Protruding tongue, Microceph... OMIM:612289
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Duodenitis, Intestinal malrotation, Cleft soft palate, Su... OMIM:619472
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:1340
Helsmoortel-Van Der Aa Syndrome
Mitral regurgitation, Ventriculomegaly, Heart murmur, Lateral ventricle dilatation OMIM:615873
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Microcepha... ORPHA:235
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Holoprosencephaly, A... ORPHA:2162
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Microcephaly, Recurrent pneumonia, Gingival overgrowth, Lateral ventr... OMIM:614098
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis ORPHA:538
Atelosteogenesis Type I
Malrotation of colon, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Vascular dilatation OMIM:311200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary artery pressure,... OMIM:619351
Ogden Syndrome
Deep philtrum, Ventricular tachycardia, Short philtrum, High palate, Supraventricular tachycardia... OMIM:300855
Apert Syndrome
Hydrocephalus, Overriding aorta, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Marden-Walker Syndrome
Microcephaly, Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Narrow ... ORPHA:2461
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, High, narrow palate, Hydrocephalus, Submucous cleft hard palat... ORPHA:2658
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Gaucher Disease
Abnormal bleeding, Death in infancy, Hydrocephalus, Pulmonary arterial hypertension, Gingival ble... ORPHA:355
Diaphanospondylodysostosis
Pulmonary hypoplasia, Cleft palate OMIM:608022
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Pulmonary hyp... OMIM:617925
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Retinal arteriolar tortuosity, Patent ductus arteriosu... ORPHA:567
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Dubowitz Syndrome
Delayed eruption of teeth, Microcephaly, Carious teeth, Velopharyngeal insufficiency, Submucous c... OMIM:223370
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Microcephal... ORPHA:818
Congenital Tracheomalacia
Pneumonia, Esophageal atresia, Patent ductus arteriosus, Partial anomalous pulmonary venous retur... ORPHA:95430
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation OMIM:300896
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Pleural effusion, High palate, Short philtrum, Pulmo... OMIM:620369
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocep... OMIM:300373
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Aortic aneurysm OMIM:182212
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Varicose veins, Pulm... ORPHA:2072
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Hydrocephalus OMIM:245600
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Narrow mouth, Hydrocephalus, Cleft palate, Stillbirth, High palate, Pulmonar... OMIM:208150
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Pulmonary hypoplasia, Microcephaly ORPHA:86822
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypo... OMIM:273395
Ear-Patella-Short Stature Syndrome
Microcephaly, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion bor... ORPHA:2554
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Pulmonary ... OMIM:613177
Distal Deletion 15Q
Thin upper lip vermilion, Abnormality of the dentition, Microcephaly, Patent ductus arteriosus, C... ORPHA:1596
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... OMIM:619194
Diamond-Blackfan Anemia
Cleft soft palate, Microcephaly, Cleft lip, High palate, Adenocarcinoma of the colon ORPHA:124
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Microcephaly, Supernumerary tooth, Submu... OMIM:300166
Atelosteogenesis Type Ii
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia, Long philtrum ORPHA:56304
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pulmonary artery stenosis, Bruising susceptibility, Hydrocephalus ORPHA:667
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Carious teeth, Pulmonary arterial medial hypertrophy, Thin vermili... OMIM:601559
Mucopolysaccharidosis Type 3
Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly ORPHA:581
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Hydrocephalus, Abnormal carotid artery morphology, Abnorm... ORPHA:84
Mohr Syndrome
Hydrocephalus OMIM:252100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Portal h... OMIM:619503
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Microcephaly, Pyloric s... OMIM:235730
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Hydrocephalus ORPHA:261337
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Multiple Pterygium Syndrome, Escobar Variant
Dental malocclusion, Cleft palate, Downturned corners of mouth, High palate, Pulmonary hypoplasia... OMIM:265000
Tetrasomy 9P
Pericarditis, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, Ra... ORPHA:3310
Tarp Syndrome
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Pulmonary hypoplasi... ORPHA:2886
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Cleft upper lip, Microcephaly, Patent ductus arteriosus, Submucous ... OMIM:607872
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Bronchitis, Cleft li... ORPHA:1199
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia, Protruding tongue OMIM:200600
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Microcephaly, Patent ductus arteriosus, Submucous cleft hard pa... ORPHA:3047
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Mitral stenosis, Hydrocephalus ORPHA:955
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Hydrocephalus, Stillbirth ORPHA:95699
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Patent ductus arteriosus, Tetralogy of Fallot, Hydrocephalus OMIM:154400
Restrictive Dermopathy 1
Natal tooth, Patent ductus arteriosus, Submucous cleft hard palate, Stillbirth, Pulmonary hypopla... OMIM:275210
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Tricuspid regurgitation, Abnormal lung lobation, Wide ... ORPHA:79328
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis ORPHA:2470
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Agenesis... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Agenesis... ORPHA:261552
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Hypertension, Pulmonary lymphangiomyomatosis, Subependymal nodule... ORPHA:805
Microphthalmia With Limb Anomalies
Venous insufficiency, Death in infancy, Hydrocephalus ORPHA:1106
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2166
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitr... ORPHA:2556
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Widely spaced teeth, Agenesis of corpus callosum, Bifid uvula... ORPHA:2152
Campomelic Dysplasia
Irregular dentition, Carious teeth, Hydrocephalus, Submucous cleft hard palate, Recurrent upper r... OMIM:114290
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly, Coarctation of aorta ORPHA:2322
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Dilatation of the ce... OMIM:619475
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... ORPHA:3384
Mosaic Trisomy 16
Patent ductus arteriosus, Abnormal lung morphology, Anteriorly placed anus, Wide mouth, Pulmonary... ORPHA:1708
Pagod Syndrome
Death in infancy, Sudden cardiac death, Microcephaly, Pulmonary artery hypoplasia, Pulmonary hypo... ORPHA:991
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Hydrocephalus OMIM:102500
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Pulmonary hypoplasia, Respiratory infections in early life ORPHA:96179
Costello Syndrome
Hydrocephalus, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymphangiectasis, Vent... OMIM:218040
Alobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93924
Semilobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:220386
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Cockayne Syndrome B
Hypertension, Arrhythmia, Normal pressure hydrocephalus, Death in childhood OMIM:133540
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Renal Agenesis
Hypertension, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Cockayne Syndrome A
Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left superior vena cava, Vent... OMIM:216400
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Microcephaly OMIM:618891
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation, Communicating hydrocephalus ORPHA:309282
Yunis-Varon Syndrome
Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pu... ORPHA:3472
Fraser Syndrome
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Microcephaly, Dental malocclus... ORPHA:2052
Kabuki Syndrome 1
Lateral ventricle dilatation, Hydrocephalus, Coarctation of aorta OMIM:147920
Holoprosencephaly 9
Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly OMIM:610829
Meckel Syndrome 14
Pneumothorax, Mitral regurgitation, Tricuspid regurgitation, Pulmonary hypoplasia OMIM:619879
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the dentition, Narrow mouth, Cleft palate, Aortic valve stenosis, Pulmonary hypopl... ORPHA:536471
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia, Cleft upper lip OMIM:308050
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Patent ductus arteriosus, Cephalohematoma, Mild fetal ven... OMIM:619841
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Holoprosencephaly 2
Microcephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxill... OMIM:157170
Fraser Syndrome 1
Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Microcephaly, Hydrocephalu... OMIM:219000
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Abnormality of the gingiva, Recurrent pneumonia... ORPHA:798
Coffin-Siris Syndrome 12
Microcephaly, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommu... OMIM:619325
Cryptococcosis
Hydrocephalus ORPHA:1546
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal... ORPHA:580
Neurofibromatosis Type 1
Hypertension, Hydrocephalus, Arterial stenosis ORPHA:636
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... OMIM:200995
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Choreoacanthocytosis
Lateral ventricle dilatation, Dilated cardiomyopathy ORPHA:2388
Hydrolethalus Syndrome 1
Anencephaly, Stillbirth, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malforma... OMIM:236680
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Hydrocephalus, Downturned co... ORPHA:3455
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Recurrent respiratory infections, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:208500
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Tolchin-Le Caignec Syndrome
Submucous cleft hard palate, High palate, Narrow mouth OMIM:618971
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Pulmonary hypoplasia, Protruding tongue ORPHA:50945
Restrictive Dermopathy
Natal tooth, Patent ductus arteriosus, Submucous cleft hard palate, Pulmonary hypoplasia, Narrow ... ORPHA:1662
Peters Plus Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal pulmonary vein morphology, Pulmonic stenosis, S... ORPHA:709
Oligomeganephronia
Hypertension, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Mitral regurgitation, Hydrocephalus, Pulmonic stenosis ORPHA:363700
Focal Dermal Hypoplasia
Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Acrorenal-Mandibular Syndrome
High palate, Pulmonary hypoplasia, Narrow palate OMIM:200980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Miscarriage, Microcephaly, Narrow mouth, Deep philtrum, Pulmonary art... ORPHA:96334
Greenberg Dysplasia
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Microcephaly, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Bifid uvula ORPHA:2636
Neuroocular Syndrome
Microcephaly, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely space... OMIM:619539
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Simpson-Golabi-Behmel Syndrome, Type 1
Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Total anomalous pulmonary venous return,... OMIM:312870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Dilatation of the sinus of Valsalva, Spina bifida OMIM:304120
Peters-Plus Syndrome
Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, Ventricu... OMIM:261540
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Portal hypertension, Recurrent pneumonia, ... ORPHA:731
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Dandy-Walker malformation, Ventriculomegaly, Cleft upper lip, Esophageal atresia, Ectopic anus, P... ORPHA:93271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca ORPHA:1112
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Microcephaly, Pyloric stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth ORPHA:83617
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Wolf-Hirschhorn Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Pmm2-Cdg
Pericarditis, Angina pectoris, Intracranial hemorrhage, Hypertrophic cardiomyopathy, Dandy-Walker... ORPHA:79318
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Pallister-Killian Syndrome
Tented upper lip vermilion, Anteriorly placed anus, Bifid uvula, Patent ductus arteriosus, Aortic... OMIM:601803
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonar... OMIM:620025
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Right ventricular failure... ORPHA:99125
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Frontal encephalocele, Stillbirth, Hydrocephalus OMIM:268300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Anal atresia OMIM:271520
Cardiac-Urogenital Syndrome
Tachycardia, Intestinal malrotation, Patent ductus arteriosus, Partial anomalous pulmonary venous... OMIM:618280
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Rectovaginal fistula OMIM:236700
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Pulmonary hypoplasia OMIM:616503
Ulbright-Hodes Syndrome
Pneumothorax, Thin vermilion border, High palate, Pulmonary hypoplasia, Narrow mouth, Long upper lip ORPHA:3404
Townes-Brocks Syndrome 1
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly OMIM:107480
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... OMIM:164210
Microphthalmia, Syndromic 1
Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow palate, Recta... OMIM:309800
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Penile Agenesis
Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Pulmonary hypoplasia, Anal at... ORPHA:49
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... ORPHA:286

Histopathology

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

There is no histopathology data for Adgra2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adgra2.

No publications found that use IMPC mice or data for Adgra2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Adgra2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice
Adgra2tm79332(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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