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Gene: Itgav MGI:96608

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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:
integrin alpha V
Synonyms:
D430040G12Rik,  CD51,  2610028E01Rik,  vitronectin receptor alpha polypeptide (VNRA),  1110004F14Rik,  alphav-integrin

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 Itgav 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 Itgav by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Stroke, Ischemic
Stroke OMIM:601367
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Moyamoya Disease 2
Transient ischemic attack, Moyamoya phenomenon OMIM:607151
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Lambert Syndrome
Ventricular septal defect, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, I... ORPHA:1296
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Dural Sinus Malformation
Nausea and vomiting, Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopath... ORPHA:97339
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplas... OMIM:300049
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Hypertension, Is... ORPHA:280679
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral calcification, Petechiae, Cerebral hemorrhage, Microcephaly, Secundum atri... OMIM:617397
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor... OMIM:615583
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Methanol Poisoning
Bilateral basal ganglia lesions, Myocardial infarction, Abdominal pain, Abnormal putamen morpholo... ORPHA:31825
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Short neck, Hydrocephalus, Patent ductus arteriosus... OMIM:612938
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Cerebral calcification, Leukoencephalopathy, Feeding difficulties, D... OMIM:620368
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral calcification, Cerebral hemorrhage, Diffus... ORPHA:464321
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Gastrostomy tube feeding in infan... OMIM:620278
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipid content, Knee flexion contr... OMIM:608836
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Cerebral hemorrhage, Basal ... ORPHA:542310
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Moyamoya phenomenon, Dilated ca... OMIM:300845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hydrocephalus, Flexion contracture, Abn... OMIM:613155
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... OMIM:614424
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Dengue Fever
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, A... ORPHA:99828
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downtur... ORPHA:453499
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding difficulties in infancy, Conge... OMIM:618654
X-Linked Mandibulofacial Dysostosis
Short stature, Microcephaly, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abno... ORPHA:1131
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral calcification, Cerebral hemorrhage, Cardiomegaly, Abnormal cerebral wh... OMIM:618886
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Gingival overg... OMIM:269920
Fetal Gaucher Disease
Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Hydrops fetalis, Intracranial ... ORPHA:85212
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr... ORPHA:230839
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Trapezius muscle aplasia OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Thick corpus callosum, Macrocephaly, Polymicrogyria, Ventriculomegaly OMIM:615938
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Diarr... ORPHA:449285
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Intracranial hemorrhage ORPHA:398189
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left vent... OMIM:614096
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Macrocephaly, Polymicrogyri... OMIM:615937
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Feeding difficulties, Growt... ORPHA:79284
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Intracranial hemorrhage, Growth delay, Polymicrogyria, Ventri... OMIM:614483
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology OMIM:152900
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hepatomegaly, Microcephaly, Hydrocephalus, Flexion contracture, Cerebral atrop... OMIM:300884
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Multiple joint contractures, Polyhydramnio... OMIM:618291
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... ORPHA:85446
Mulibrey Nanism
Hepatomegaly, Short stature, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malo... OMIM:253250
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Cortical dysplasia, Hydrocephalus, Macrocephaly, Ventriculomegaly, Abnormal corpus ... OMIM:618709
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus, Megalencephaly OMIM:155350
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hypoplasia of the musculature, Microcephaly, Polyhydramnios, Hydrocephalus, Cle... OMIM:225790
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Short neck, Hydrocephalus, Patent ductus arteriosus, Short philtrum, Hypoplasia of... ORPHA:1516
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Microcephaly, Situs inversus totalis, Hy... ORPHA:1908
Congenital Toxoplasmosis
Hepatomegaly, Cerebral calcification, Microcephaly, Cardiomegaly, Hydrocephalus, Diarrhea, Intrau... ORPHA:858
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Thin upper lip vermilion, Dental crowding, Ankle flexion contracture, Microcephal... ORPHA:435938
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom... ORPHA:2924
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Triploidy
Hepatomegaly, Intestinal malrotation, Polyhydramnios, Short neck, Narrow mouth, Hydrocephalus, Me... ORPHA:3376
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... OMIM:620183
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High palate, Atrial se... OMIM:612863
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se... OMIM:609029
1Q21.1 Microduplication Syndrome
Hydrocephalus, Gastroesophageal reflux, Macrocephaly, Arthrogryposis multiplex congenita, Tetralo... ORPHA:250994
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple... OMIM:602248
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Narrow mouth, Hydrocephalus, Mitral regurgitation, Abn... ORPHA:83473
Amish Lethal Microcephaly
Hepatomegaly, Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Mi... ORPHA:99742
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Atypical Teratoid Rhabdoid Tumor
Nausea and vomiting, Hydrocephalus, Cerebral calcification, Macrocephaly ORPHA:99966
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Microcephaly, Intraventricular hemorrhage, Death in adolescence, Increased CSF ... OMIM:619055
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Thickened nuchal skin fold, Gastrointestinal hemorrhage, Cerebra... ORPHA:758
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Emanuel Syndrome
Multiple joint contractures, Redundant neck skin, Dental crowding, Congenital diaphragmatic herni... ORPHA:96170
Trisomy 17P
Skeletal muscle atrophy, Short stature, Microcephaly, Short neck, Hydrocephalus, Flexion contract... ORPHA:261290
Fried Syndrome
Skeletal muscle atrophy, Cerebral calcification, Hydrocephalus, High palate, Short philtrum ORPHA:85335
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ilea... OMIM:243150
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palat... ORPHA:79076
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Ventriculomegaly, Cerebral calcification, Splenomegaly, Hydrocephalus, Cerebral atr... OMIM:610333
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o... ORPHA:370959
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Double outlet right ventricl... OMIM:220210
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Hydrocephalus, Myopathy, Macrocephaly, Dandy-Walker malformation OMIM:607091
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Al Amyloidosis
Xerostomia, Abnormal salivary gland morphology, Hepatomegaly, Abnormal EKG, Abnormality of the ga... ORPHA:85443
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Deep philtrum, Orofacial ... OMIM:609637
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... OMIM:613153
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly ORPHA:79301
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr... ORPHA:352665
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Orofacial cleft,... ORPHA:324416
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Gastrointe... ORPHA:90068
Diabetic Embryopathy
Ventricular septal defect, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:1926
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Ventriculomegaly, Camptodactyly of finger, Hydrocephalus... ORPHA:272
Hydranencephaly
Ventriculomegaly, Stiff neck, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Postnat... ORPHA:2177
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... ORPHA:536545
Primary Angiitis Of The Central Nervous System
Nausea and vomiting, Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Multifocal ... ORPHA:140989
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
3C Syndrome
Short neck, Feeding difficulties in infancy, High, narrow palate, Orofacial cleft, Abnormal tricu... ORPHA:7
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Pineocytoma
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... ORPHA:100082
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Thin upper lip vermilion, Ventricular septal defect, Cam... ORPHA:261330
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... ORPHA:2919
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Acalvaria
Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp... OMIM:615599
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Microcephaly, Cardiomegaly, Short neck, Flexion contra... OMIM:616897
Osteogenesis Imperfecta
Abnormality of dental color, Flexion contracture, Short stature, Rhizomelia, Abnormal dental enam... ORPHA:666
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Feeding difficulties in infancy, Deep philtrum, Gast... ORPHA:2162
Alg3-Cdg
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Microcephaly, Hypoplasi... ORPHA:79321
Tarp Syndrome
Meckel diverticulum, Cerebellar vermis hypoplasia, Subdural hemorrhage, Cleft palate, Tongue nodu... OMIM:311900
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Death in infancy, Peau d'orange, Ventricular septal defect, Abno... OMIM:614576
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... OMIM:239850
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Short neck, High, narrow palate, Hydrocephalus, Low posterior hairline, Mitral val... ORPHA:2183
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort... OMIM:615191
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Polyhydramnios, Microcephaly, Megalencephaly, Intraventricular hemorrhage,... OMIM:613603
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Small cerebral cortex, Colp... ORPHA:2185
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Hydrocephalus, Cherry red spot of the macul... ORPHA:93400
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Abn... OMIM:309900
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Median cleft lip, Short stature, Microcephaly, Hydroce... OMIM:241800
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Dental crowding... OMIM:612582
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... ORPHA:261311
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Carious teeth, Hydrocephalus, Deep philtrum, Thick lower lip vermilion, Low poster... ORPHA:2701
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Oral ulcer, Hematochezia, Growth delay, Colitis, Crohn's disease OMIM:613148
Combined Oxidative Phosphorylation Deficiency 25
Smooth philtrum, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atr... OMIM:616430
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,... ORPHA:679
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macrocephaly, Hydrocephalus, Cardiomegaly OMIM:300886
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, High... OMIM:304100
Distal 22Q11.2 Microduplication Syndrome
High palate, Biparietal narrowing, Short philtrum, Camptodactyly of toe, Long philtrum, Branchial... ORPHA:261337
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent duc... OMIM:618652
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Hydrocephalus, Abnormal heart morphology, Macrocephaly, Camptod... OMIM:175700
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition ORPHA:1008
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly, Microcephaly, Feeding difficulties in ... OMIM:618798
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... OMIM:620135
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature OMIM:609166
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Redundant neck skin, Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holo... OMIM:617967
Fg Syndrome Type 1
Dental crowding, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal defect, Long ph... ORPHA:93932
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Increased CSF lactate, Feeding di... OMIM:619051
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Intracranial hemorrhage, Aplasia/Hypoplasia of the cerebellum, Dan... ORPHA:2481
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Smooth philtrum, Schizencephaly, Reduced cerebral white matter volume, Short neck, High, narrow p... OMIM:620156
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... OMIM:220220
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, High, narrow palate, Hydrocephalus, Umbilical hernia ORPHA:2181
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:303350
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Malabso... ORPHA:3452
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Microcephaly, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left hea... OMIM:617660
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Protein-losing e... ORPHA:79319
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Feeding d... OMIM:616034
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
1Q44 Microdeletion Syndrome
Smooth philtrum, Short stature, Intestinal malrotation, Exaggerated cupid's bow, Microcephaly, Hy... ORPHA:238769
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha... ORPHA:2070
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Submucous cleft hard palate, Feeding difficulties, Pulmonic stenosis, Atrial septal... OMIM:619239
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Postnatal growth retardation, Abnormal cardiac ventricle mor... ORPHA:2306
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Microcephaly, Hiatus hern... OMIM:616682
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Paten... ORPHA:93274
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Bifid uvula, Absent septum pellucidum, Patent ductus art... ORPHA:35107
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... ORPHA:2712
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Facial palsy, Cleft palate, High palat... OMIM:113650
Temple Syndrome
Relative macrocephaly, Short stature, Hydrocephalus, Flexion contracture, Cleft palate, Feeding d... OMIM:616222
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Feeding difficulties in infancy, Anorectal anomaly, Abnormal aortic a... ORPHA:567
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... OMIM:617341
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Intraute... OMIM:614702
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Thin upper lip vermilion, Short stature, Increased nuchal translucency, Oligohydramnios, Fetal in... OMIM:618480
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Short stature, High, narrow palate, Hydrocephalus, Feeding difficultie... OMIM:619575
Propionic Acidemia
Hepatomegaly, Short stature, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhag... OMIM:606054
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... ORPHA:99745
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern, Periventricular... OMIM:619470
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Microcephaly, Congenital diaphragmatic hernia, High, narrow pa... ORPHA:2409
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Nasogastric tube feeding in infancy, Atrial septal de... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Nasogastric tube feeding in infancy, Atrial septal de... ORPHA:363958
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Macrocephaly, Umbilical hernia, Agenesis of corpu... ORPHA:380
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... OMIM:619302
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Basal ganglia calcification, Bloody diarrhea, Hepatomegaly, Intracereb... OMIM:615846
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Polyhydramnios, Microcephaly,... OMIM:619833
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, ... ORPHA:261102
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Short stature, Cleft soft palate, Dental crowding, Abnormality of the d... OMIM:616331
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, ... OMIM:618174
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, A... ORPHA:2869
Menkes Disease
Short stature, Microcephaly, Intracranial hemorrhage, Death in childhood, Intrauterine growth ret... OMIM:309400
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Short stature, Diastema, Hydrocephalus, Patent ductus arteriosus, F... OMIM:609757
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor... ORPHA:352682
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short stature, Microcephaly, Broad skull, Hy... ORPHA:163979
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft ha... ORPHA:3426
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Ventricular septal defect, Megalencephaly, Hydrocephalus, Progressive macrocepha... OMIM:602501
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Growth ... ORPHA:85284
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... OMIM:147800
Short-Rib Thoracic Dysplasia 12
Edema, Short neck, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Neonatal death, Patent fo... OMIM:269860
Trisomy 1Q
Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:261344
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, High, narrow palate, Congen... OMIM:208150
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Dispropor... ORPHA:2655
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Microcephaly, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Hyd... ORPHA:79282
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
8Q24.3 Microdeletion Syndrome
Branchial cyst, Short neck, Feeding difficulties in infancy, Nasogastric tube feeding in infancy,... ORPHA:508488
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Microcephaly, Malabsorption, Feeding difficulti... ORPHA:565
Tetrasomy 15Q26
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly, Atr... OMIM:614846
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Neoplas... ORPHA:543
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus OMIM:129850
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Anorexia, Malabsorption, Periorbital edema,... ORPHA:33226
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Short neck, Esophageal atresia, Hydrocephalus, Paten... OMIM:300514
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Purpura, Everted upper lip vermilion, Petechiae, Nonimmune hydrops fetalis, Polyhyd... OMIM:608013
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Thin vermilion border ORPHA:1532
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Gastritis, Prolonged bleeding ... ORPHA:809
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Hypophosphatasia, Infantile
Death in infancy, Anorexia, Abnormality of the dentition, Polyhydramnios, Intracranial hemorrhage... OMIM:241500
Monosomy 18Q
Secundum atrial septal defect, Diffuse white matter abnormalities, Downturned corners of mouth, H... ORPHA:1600
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Vasc... ORPHA:343
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Hydrocephalus, Chronic diarr... OMIM:616355
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Miscarriage, Microcephaly, Short neck, Hydrocephalus, Flexio... ORPHA:1865
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Short stature, Microcephaly, Hydrocephalus, High palate, Open mouth, Th... OMIM:300558
Monosomy 13Q34
Epistaxis, Microcephaly, Hematochezia, Growth delay, Prolonged prothrombin time, Pulmonic stenosi... ORPHA:96168
Cirrhotic Cardiomyopathy
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Pulmona... ORPHA:57777
Desmoid Tumor
Intestinal polyposis, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Malabs... ORPHA:873
Hellp Syndrome
Pulmonary edema, Nausea, Abdominal pain, Cerebral hemorrhage, Prolonged prothrombin time, Vomitin... ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Ventriculomegaly, Microcephaly, Cleft upper lip, Partial absence... OMIM:613150
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephalus, Patent ductus arterios... OMIM:218350
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Death in infancy, Sudde... OMIM:201475
Lynch Syndrome
Intestinal polyposis, Death in infancy, Death in early adulthood, Nausea and vomiting, Gastrointe... ORPHA:144
Hydrolethalus
Absent septum pellucidum, Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly... ORPHA:2189
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, High palate, Atrial septal defect, Patent fora... OMIM:615582
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... OMIM:192315
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Hepatomegaly, Intestinal obstruction, Dyspepsia, Gastr... ORPHA:85450
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Cerebral calcification, Severe short stature, Facial palsy, High, narr... ORPHA:2780
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus c... OMIM:603387
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Intracranial hemorrhage, Intramuscular h... ORPHA:324636
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Feeding difficulties, Microcephaly ORPHA:26
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Short stature, Intestinal malrotation, Microcephaly, V... OMIM:614701
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Cleft upper lip, Complete a... OMIM:264480
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myocardial contractility, Hypov... ORPHA:158687
Coffin-Siris Syndrome 11
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Low posterior hairline, D... OMIM:618779
Temple Syndrome
Relative macrocephaly, Short stature, Feeding difficulties in infancy, Postnatal growth retardati... ORPHA:254516
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Short neck, Feeding difficulties in infancy, Atrial septal ... OMIM:257300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cerebral calcification, Focal hypointensity of cerebral white matter... ORPHA:247691
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Non-midline cleft lip, Cleft palate... ORPHA:2075
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Short stature, Abnormal large int... ORPHA:109
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Abdominal pain, Periorbital edema, Chronic d... OMIM:142680
Neu-Laxova Syndrome
Skeletal muscle atrophy, Cerebral calcification, Polyhydramnios, Flexion contracture, Intrauterin... ORPHA:2671
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Increased head circumference, Gastroesophagea... OMIM:300967
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ... OMIM:601005
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Abdom... ORPHA:729
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Diarrhea, Dehydration, Cardiomyopathy, Myop... OMIM:212140
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Abdominal pain, Splenomegaly, Congestive heart failure, Di... OMIM:615895
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Alexander Disease
Death in infancy, Hydrocephalus, Progressive macrocephaly, Death in adolescence, Death in childho... OMIM:203450
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... ORPHA:397951
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Cleft palate, ... ORPHA:459061
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... ORPHA:25
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hydrocephalus, Abnormal heart morphology, Short philtrum, Everted lower lip vermil... OMIM:601499
Cerebrocostomandibular Syndrome
Polyhydramnios, Porencephalic cyst, Anteriorly placed anus, Glossoptosis, High palate, Gastroesop... OMIM:117650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th... OMIM:253800
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Hydrocephalus, Macroglossia, Intrauterine growth retardation ORPHA:1914
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Malabsorption, Anorexia, Diarrh... ORPHA:98850
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Short neck, Partial agenesis of the corpus callosum... OMIM:305450
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... ORPHA:1335
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology,... ORPHA:171839
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Short neck, Patent ductus arteriosus, Low posterio... ORPHA:1517
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft hard p... ORPHA:3201
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Diastasis recti, Short statu... OMIM:253220
Velocardiofacial Syndrome
Ventricular septal defect, Short stature, Microcephaly, Velopharyngeal insufficiency, Submucous c... OMIM:192430
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, H... OMIM:617022
Neonatal Lupus Erythematosus
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Heart block, Splenomegaly, Basal ganglia ... ORPHA:398124
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Facia... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension OMIM:619064
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema, Constipation, Cerebellar hypoplasia, Gastroesophageal reflux, Thick ver... ORPHA:3137
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Cleft palate ORPHA:50815
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Ventricular septal defect, Bicuspid ao... ORPHA:457279
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Short neck, Splenomegaly, Hydrocephalus, Flexi... OMIM:607014
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Hydrocephalus, ... ORPHA:220493
Hardikar Syndrome
Vomiting, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Short stature, Cleft soft pal... OMIM:301068
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur... ORPHA:324410
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Short stature, Short neck, Cardiomegaly, Postnatal growth retardation, Deep phi... OMIM:613320
Mirage Syndrome
Short stature, Patent ductus arteriosus, Esophageal stricture, Hydrocephalus, Chronic diarrhea, I... OMIM:617053
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... OMIM:220200
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Bicuspid aortic valve, Cleft soft palate, Short stature, Abnormality of th... OMIM:618529
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short stature, Short nec... OMIM:130720
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio... OMIM:614921
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Aplasia/Hypoplasia of the corpus ca... OMIM:617822
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Vertebral artery hypoplasia, Short stature, Dextrocardia, Unilateral vertebral art... OMIM:613686
Orofaciodigital Syndrome I
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Short stature, Ha... OMIM:311200
Myopathy, Centronuclear, X-Linked
Facial palsy, Polyhydramnios, Pyloric stenosis, Hydrocephalus, Flexion contracture, Dental malocc... OMIM:310400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Polyhydramnios, Microcephaly, Hydrocephalus, Cleft palate,... ORPHA:2166
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Ventriculomegaly, Left-to-right shunt, Abnormality of the dentition, Carious tee... ORPHA:363444
Branchiootic Syndrome
Branchial fistula, Lip pit, Facial palsy, Cleft palate ORPHA:52429
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anence... OMIM:313850
Cerebral Visual Impairment
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Abnormal cerebral w... ORPHA:447788
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Intracrania... ORPHA:3226
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Microcephaly, Cardiomegaly, Gastrointestinal dysmotility, Cerebral atro... ORPHA:391428
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Spina bifida, Microcephaly, Short neck, High, narrow palate, Hydrocepha... OMIM:613776
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Edema, Splenomega... ORPHA:79332
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Short neck, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting... OMIM:115150
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Walker-Warburg Syndrome
Skeletal muscle atrophy, Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, ... ORPHA:899
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, High palate, Gastroesop... OMIM:300373
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Esophageal var... ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Muscular dystrophy, Ventriculomegaly OMIM:614830
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypo... ORPHA:79456
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties,... OMIM:618183
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myel... ORPHA:2437
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the pons, Microcephaly, De... OMIM:618143
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Cutis Laxa, Autosomal Recessive, Type Iib
Decreased muscle mass, Prominent superficial veins, Microcephaly, Hydrocephalus, High palate, Gas... OMIM:612940
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Cardiomegaly, Perimembranous ventricular septal defect, Periventricular leukomalaci... OMIM:619170
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Microcep... OMIM:619895
Hereditary Pheochromocytoma-Paraganglioma
Nausea, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Palpitations, Pos... ORPHA:29072
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Abnormal globus pallidus morphology, Cerebellar hemorrhage, Dehydration, Cardiomyop... OMIM:251000
Lethal Congenital Contracture Syndrome 5
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture... OMIM:615368
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walker ... OMIM:249000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Trans... OMIM:314390
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept... ORPHA:2260
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Ventriculomegaly, Tricuspid regurgitation, Bicuspid aortic valve, Ventricul... OMIM:620066
Zygomycosis
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain,... ORPHA:73263
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrocephalus, Congestive heart failure... ORPHA:163596
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... ORPHA:263665
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Smooth philtrum OMIM:614526
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Scapular winging, Feeding difficulties in infancy, High, narrow pa... OMIM:616914
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... ORPHA:91139
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Dys... ORPHA:163961
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... ORPHA:329971
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Short stature, Carious teeth, S... OMIM:253200
Tetrasomy 5P
Pericallosal lipoma, Redundant neck skin, Short neck, Postnatal growth retardation, Congestive he... ORPHA:3309
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebra... ORPHA:228308
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cl... OMIM:619227
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Splenomegal... OMIM:615630
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Thin upper lip vermilion, Short stature, Facial palsy, Polyhydramnio... OMIM:620186
Branchiootic Syndrome 3
Branchial cyst, Commissural lip pit OMIM:608389
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hamartoma of tongue, Congenital diaphragmatic hernia, Short neck, A... OMIM:616546
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Polyhydramnios, Cent... OMIM:620351
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Macrocephaly, Polymicr... OMIM:600348
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard palate, High... OMIM:619314
Desmosterolosis
Relative macrocephaly, Rhizomelia, Microcephaly, Partial agenesis of the corpus callosum, Hydroce... OMIM:602398
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Pericarditis, Myositis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia OMIM:276950
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Anorexia, Abnormal left ventricular function, Ecchymosis, Intern... ORPHA:99827
Peho Syndrome
Palpebral edema, Microcephaly, Hydrocephalus, Flexion contracture, Porencephalic cyst, Gingival o... ORPHA:2836
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Diarrhea, Myopathy, Distal arthrogryposis, V... ORPHA:42
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Cardiac diverticulum, Malabsorption, Abdominal ... ORPHA:440437
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Hurler Syndrome
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Camptodactyly of finger, Angina ... ORPHA:93473
Bor Syndrome
Branchial cyst, Facial palsy, Cleft palate ORPHA:107
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Situs inversus totalis, Feedi... ORPHA:475
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short ne... OMIM:300855
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd... OMIM:239300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Patent ductu... OMIM:614557
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Vasculitis, Gastrointest... ORPHA:91138
Marden-Walker Syndrome
Skeletal muscle atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Bifid uvul... ORPHA:2461
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Intracranial hemorrhage, High pal... ORPHA:740
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Narr... ORPHA:77301
Hemochromatosis, Type 1
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasi... OMIM:235200
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Dental crowding, Anorexia, Pulmonary embolism, Esophag... ORPHA:394
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal palate morphology, Short neck ORPHA:251046
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdom... OMIM:612289
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosple... ORPHA:464329
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... ORPHA:96191
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short stature, Cleft soft palate, Short neck, Microcephaly, Patent ductus arteriosus, Feeding dif... ORPHA:2282
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Short stature, Short ... ORPHA:1340
Alobar Holoprosencephaly
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... ORPHA:93924
Semilobar Holoprosencephaly
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... ORPHA:220386
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... OMIM:608670
Distal Triplication 15Q
Hydrocephalus, Flexion contracture, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal h... ORPHA:314588
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation OMIM:607361
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Wide mouth, Branchial anomaly, Gastroesophageal reflux, Constipation, D... ORPHA:466950
Methylcobalamin Deficiency Type Cble
Microcephaly, Postnatal growth retardation, Hydrocephalus, Feeding difficulties, Abnormal cerebra... ORPHA:2169
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Facial hypotonia, Microcephaly, Hydrocephalus, Chronic constipation, ... OMIM:616362
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Chronic diarrhea, H... OMIM:268800
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure OMIM:214950
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Posterior fossa cyst at the fourth... ORPHA:2356
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio... ORPHA:308552
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Short stature, Dental crowding, Microcephaly, Protruding tongue, Submucous clef... OMIM:618106
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... OMIM:620107
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle di... ORPHA:293725
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl... ORPHA:99947
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness, Increas... OMIM:266500
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Death in childhood, Progressive alveolar ridge hypertropy, Hepatomegaly, Gingival o... OMIM:252500
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorr... ORPHA:3260
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... ORPHA:220497
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical myelopathy, Dysphag... OMIM:207950
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Paralytic ileus, ... OMIM:276700
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Growth de... OMIM:614886
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... OMIM:309801
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... OMIM:619103
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum mor... ORPHA:250989
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Feeding difficulties, Broad philtrum, Hypoplasia of the corpus callosum, Long phil... OMIM:618577
Bohring-Opitz Syndrome
Ventriculomegaly, Facial hypotonia, Short stature, Cardiomegaly, Microcephaly, Feeding difficulti... ORPHA:97297
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Rhabdomyolysis, Stroke-like episode ORPHA:79095
Alexander Disease Type I
Hydrocephalus, Progressive macrocephaly, Abnormal cerebral white matter morphology, Vomiting, Dys... ORPHA:363717
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Optic nerve hypoplasia, Microcephaly, Submucous cleft hard palate, Flexion contractur... OMIM:222765
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Short stature, Malabsorption, Splenomegaly, Hydrocephalus, Conge... ORPHA:579
Meningioma
Nausea and vomiting, Facial palsy, Cerebral hemorrhage, Hydrocephalus, Upper limb muscle weakness... ORPHA:2495
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Myop... ORPHA:3463
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Pyloric stenosis, Pedal ... ORPHA:381
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Short stature, Camptodactyly of finger, Short neck, Submucous cleft hard p... OMIM:114300
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Deep philtrum, ... OMIM:614969
Axial Mesodermal Dysplasia Spectrum
Short stature, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Anorectal anomaly, Tra... ORPHA:1834
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Short neck, Microcephaly, Hydrocephalus, Flexion contracture, Disproportionate short-trunk short ... OMIM:613330
Hemophilia B
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma OMIM:306900
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass, Short stature, Dentinogenesis imperfecta OMIM:616507
Brachycephaly, Trichomegaly, And Developmental Delay
Short stature, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ve... OMIM:617412
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke, Abnormal esophagus morphology ORPHA:1163
Metatropic Dysplasia
Hydrocephalus, Severe short stature, Camptodactyly of finger, Cleft palate ORPHA:2635
Isolated Childhood Apraxia Of Speech
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Feeding difficulties, Abnormal... ORPHA:209908
Behçet Disease
Aortic regurgitation, Nausea and vomiting, Pericarditis, Myositis, Gastrointestinal hemorrhage, M... ORPHA:117
Icf Syndrome
Communicating hydrocephalus, Short stature, Malabsorption, Protruding tongue, Macroglossia, Macro... ORPHA:2268
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Oligohydramnios, Cerebral atrophy, Lateral ventricle dilatation, Cer... OMIM:614219
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Abdominal pain, Microcephaly, Intraventricular hemorr... ORPHA:420741
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Short ne... ORPHA:1780
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Nasogastric tube feeding in infancy, Hypoplasia of the brainstem, Gastroesophageal reflux, Widely... ORPHA:268261
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... ORPHA:199306
Tetrasomy 9P
Myositis, Dental crowding, Short neck, Downturned corners of mouth, High palate, Short philtrum, ... ORPHA:3310
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepa... OMIM:613812
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheoes... ORPHA:77298
Zttk Syndrome
Feeding difficulties in infancy, Flexion contracture, Downturned corners of mouth, High palate, S... OMIM:617140
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Poor appetite, Anorexia, Lack of bowel sounds, Bloody d... ORPHA:100075
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting OMIM:600649
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia OMIM:104350
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Wide mouth, Macroglossia, Syncope, Gastroesophageal reflux, Re... OMIM:616260
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Feeding difficulties in infancy, High, narrow pa... OMIM:613406
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Sudden cardiac death, My... ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Thin upper lip vermilion, Short stature, Microcephaly, Subdural hemorrhage, Skeletal muscle hyper... OMIM:619714
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, High palate, Short philtrum, Death in ... OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Feeding difficulties in infancy, Hypoplasia of the brainstem, Congenital... OMIM:236670
Stormorken Syndrome
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopat... OMIM:185070
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... ORPHA:100080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissen... OMIM:614643
Neu-Laxova Syndrome 1
Polyhydramnios, Short neck, Swollen lip, Neonatal death, Patent foramen ovale, Agenesis of corpus... OMIM:256520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Flexion contracture, Feeding difficulties, Hypoplasia of the brainst... OMIM:615249
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Dextrocardia
Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnorm... ORPHA:1666
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus, Hypertension, Tooth agenesis,... ORPHA:1555
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Dental malocclusion, Narrow palate,... OMIM:182212
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplified gyral pattern, Downturn... ORPHA:500150
Raine Syndrome
Natal tooth, Death in infancy, Cerebral calcification, Short stature, Protruding tongue, Microcep... OMIM:259775
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Cleft soft palate, Polyhydramnios, Nasogastric tube feeding in infancy, Dis... ORPHA:93316
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Polyhydramni... OMIM:300990
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Sudden cardiac death, Ma... ORPHA:537
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal ... OMIM:605627
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Feeding difficulties in infancy, Partial agenesis of the corpus cal... ORPHA:300570
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Short stature, Microcephaly,... ORPHA:124
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Rhizomelia, Short stature, Knee flexion contracture ORPHA:166016
Mogs-Cdg
Hepatomegaly, Generalized edema, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosple... ORPHA:79330
Primary Ciliary Dyskinesia
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Inte... ORPHA:244
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Macroceph... ORPHA:1860
Fanconi Anemia
High palate, Atrial septal defect, Short stature, Spina bifida, Aplasia/Hypoplasia of the uvula, ... ORPHA:84
15Q Overgrowth Syndrome
Smooth philtrum, Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid r... ORPHA:314585
Peters Plus Syndrome
Polyhydramnios, Short neck, Feeding difficulties in infancy, Bicuspid pulmonary valve, Abnormal p... ORPHA:709
1Q41Q42 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Growth... ORPHA:250999
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... ORPHA:2369
Iniencephaly
Encephalocele, Rhizomelia, Congenital diaphragmatic hernia, Spina bifida, Polyhydramnios, Myelome... ORPHA:63259
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Cerebral white matter atrophy, Mild postnatal growth retardation, Basal ... ORPHA:90324
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Intestinal obstruction, Recurrent... ORPHA:900
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Microcephaly, Alobar holoprosencep... OMIM:610828
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Diarrhea, Episodic vomiting, Stroke-like episode, Cardiomyopathy, Constipation, Inc... OMIM:105210
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Petechiae OMIM:603909
Stromme Syndrome
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... OMIM:243605
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro... ORPHA:2839
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, ... OMIM:245600
Thanatophoric Dysplasia, Type I
Polyhydramnios, Short neck, Hydrocephalus, Temporal lobe dysplasia, Disproportionate short-limb s... OMIM:187600
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Diarrhea, Capillary leak, Int... ORPHA:340
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Periventricular leukomalacia, Microcephaly OMIM:618302
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Short stature, Microcephaly, Feeding difficulties in infancy, Submucous cleft hard palate, Flexio... OMIM:618891
Gastrointestinal Stromal Tumor
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Cerebral calcification, Tricuspid regurgitation, Short neck, Congestive heart failur... ORPHA:505248
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Wide mouth, Cerebral ischemia, Arteriovenous malformat... ORPHA:60040
Mucopolysaccharidosis Type 3
Cardiomegaly, Flexion contracture, Atrioventricular block, Hepatomegaly, Constipation, Thick verm... ORPHA:581
Microphthalmia, Syndromic 2
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... OMIM:300166
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy, Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Microcephaly, High, narrow palate, Aplasia/... ORPHA:2462
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Gastrointesti... OMIM:270400
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomeningocele, Hydroc... ORPHA:90652
Hajdu-Cheney Syndrome
Short neck, Downturned corners of mouth, Periodontitis, Long philtrum, Hepatomegaly, Short statur... ORPHA:955
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... ORPHA:70475
Kleeblattschaedel
Hydrocephalus OMIM:148800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Short neck, Hydrocephalus, Cleft palate, Neonatal short-limb... OMIM:224400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Short stature, Rhizomelia, Hydrocephalus, Wide mouth, Short philtrum, Cerebella... ORPHA:163966
Trisomy 8P
Peripheral pulmonary artery stenosis, Multiple joint contractures, Abnormal atrioventricular conn... ORPHA:264450
Myhre Syndrome
Severe short stature, Submucous cleft hard palate, Cleft palate, Gingival cleft, Skeletal muscle ... ORPHA:2588
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuos... OMIM:175780
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Short stature, Facial palsy, Microcephaly, Splenomegaly, Diffuse white matter abnor... OMIM:259720
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Hydrocephalus, Patent ductus arteriosus, Knee flexion contracture,... OMIM:618162
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Edema, Malabsorption, Splenomegaly, Join... ORPHA:2796
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Growth delay, Eosinophilic infiltration of the esop... OMIM:243700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Feeding difficulties in infancy, Abnormal internal carotid artery morphology, Flexi... ORPHA:365
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea... OMIM:208000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Lo... ORPHA:2463
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly, Cerebral atrophy, Increased CS... OMIM:620306
Kabuki Syndrome
Short stature, Abnormal dental morphology, Congenital diaphragmatic hernia, Microcephaly, Lip pit... ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus, Thin corpus callosum, Cerebral atrophy OMIM:616521
Superficial Siderosis
Increased CSF protein concentration, Enlarged sylvian cistern, Abnormal bleeding, Abnormal cerebr... ORPHA:247245
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... ORPHA:2751
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Simplified gyral pattern, Hi... ORPHA:96121
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Bowel incontinence, Megalencephaly, Congestive heart failure, H... OMIM:616482
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Abdom... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Dominant 70
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal... OMIM:620157
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Mend Syndrome
Thickened nuchal skin fold, Short stature, Asymmetry of the mouth, Long neck, Hydrocephalus, Clef... ORPHA:401973
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Right bu... OMIM:618590
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Feeding... ORPHA:1454
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy OMIM:252920
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroesophageal ref... OMIM:619950
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Gastrointestinal infarctions, Arteriovenous malform... ORPHA:1059
Native American Myopathy
Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Abnormality of skeletal muscle fibe... ORPHA:168572
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Fetal ascites, Ascending aorta hypoplasia, Deep philtrum, Flexion contracture, K... OMIM:619503
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Hepatomegaly, Short stature, Ch... ORPHA:580
Yunis-Varon Syndrome
Redundant neck skin, Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad se... ORPHA:3472
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Flexion contra... OMIM:210710
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Rhabdomyolysis... ORPHA:157
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain, Lymphedema, Hydrocephalus, Chylopericardium, Chyloth... ORPHA:538
Ppoma
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... ORPHA:97278
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Cerebral white matter atrophy, Short stature, Microcephaly, Dilated third ... ORPHA:500055
Apert Syndrome
Delayed eruption of teeth, Absent septum pellucidum, Feeding difficulties in infancy, Esophageal ... ORPHA:87
Glucagonoma
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Anorexia,... ORPHA:97280
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardi... ORPHA:1272
Apert Syndrome
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Absent septum pellucidum,... OMIM:101200
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Hydrocephalus, High palate, Macrocephaly, Dentinogen... OMIM:616294
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia ORPHA:2119
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, High palate, Abnormal dental enamel morphology, Macrocephaly ORPHA:2180
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Redundant neck skin, Feeding difficulties in infancy, Hydrocephalus, Gingival overgr... OMIM:123790
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Alexander Disease
Nausea and vomiting, Cerebral calcification, Facial palsy, Sudden cardiac death, Megalencephaly, ... ORPHA:58
Diencephalic Syndrome
Hydrocephalus, Everted lower lip vermilion ORPHA:1672
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Diarrhea, Feeding difficulties, Arrhythmia OMIM:255120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, H... OMIM:619321
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Microcephaly, Hypoplasia of the pons, ... OMIM:619512
Intellectual Developmental Disorder, Autosomal Dominant 65
Thick upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Noncommunicating hydroce... OMIM:619320
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Polyhydramnios, Feeding difficulties in infancy, Hydrocephalus... ORPHA:1812
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... OMIM:109400
Peters-Plus Syndrome
Short lingual frenulum, Polyhydramnios, Short neck, Feeding difficulties in infancy, Anteriorly p... OMIM:261540
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Coach Syndrome 2
Hypertension, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Short stature, Malabsorption, Microcephaly, Postnatal g... ORPHA:235
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the dentition, Short neck, Microcephaly, Submucous cleft ... ORPHA:178303
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... ORPHA:199302
Meier-Gorlin Syndrome 5
Short stature, Microcephaly, Submucous cleft hard palate, Feeding difficulties, Birth length less... OMIM:613805
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Polyhydramnios, Patent ductus arteriosus, Submucous cleft ha... OMIM:275210
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... ORPHA:2753
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Vipoma
Nausea and vomiting, Hepatomegaly, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, De... ORPHA:97282
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Functional abnormality of the gastrointestinal tract, Cere... ORPHA:2770
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Secundum ... OMIM:619951
Albers-Schönberg Osteopetrosis
Short stature, Facial palsy, Abnormality of the dentition, Carious teeth, Hydrocephalus, Macrocep... ORPHA:53
Mowat-Wilson Syndrome
Large basal ganglia, Vomiting, Widely spaced teeth, Atrial septal defect, Agenesis of corpus call... OMIM:235730
Grfoma
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... ORPHA:97261
Medulloblastoma
Nausea and vomiting, Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Progres... ORPHA:616
Cousin Syndrome
Rhizomelia, Short neck, Hydrocephalus, Disproportionate short stature, Alveolar ridge overgrowth,... OMIM:260660
Crouzon Syndrome
Hydrocephalus, Cerebellar hypoplasia, Narrow palate ORPHA:207
Edinburgh Malformation Syndrome
Hydrocephalus, Low posterior hairline, Downturned corners of mouth, Thin vermilion border, Narrow... ORPHA:1895
Endocrine-Cerebroosteodysplasia
Natal tooth, Ventriculomegaly, Thick upper lip vermilion, Median cleft lip, Absent septum pelluci... OMIM:612651
Krabbe Disease
Diffuse cerebral atrophy, Increased CSF protein concentration, Hydrocephalus, Vomiting OMIM:245200
Schilbach-Rott Syndrome
Short stature, Microcephaly, Submucous cleft hard palate, Narrow mouth, Bifid uvula OMIM:164220
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Short stature, Short neck, Hydrocephalus, Pate... OMIM:102500
Pettigrew Syndrome
Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal ... OMIM:304340
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Facial palsy, Microcephaly, Malrotation of colon, Pyloric stenosis... OMIM:113620
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... ORPHA:1071
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Short stature, Bifid uvula OMIM:601492
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, ... ORPHA:1662
Somatostatinoma
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... ORPHA:97283
Hydrolethalus Syndrome 1
Broad neck, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Abnormal corti... OMIM:236680
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Absent extraocular muscl... OMIM:109120
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Tented upper lip vermilio... OMIM:617281
Jacobsen Syndrome
Ventricular septal defect, Microcephaly, Short neck, Pyloric stenosis, Hydrocephalus, Flexion con... OMIM:147791
Papillary Tumor Of The Pineal Region
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Edema, Malabsorption, Celiac dise... ORPHA:90363
Optic Pathway Glioma
Growth delay, Hydrocephalus, Vomiting, Nausea ORPHA:2086
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Orofacial cleft, Aplasia/Hypopl... ORPHA:1647
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical dysplasia, Porencephali... OMIM:613001
Costello Syndrome
Redundant neck skin, Polyhydramnios, Short neck, High palate, Atrial septal defect, Lymphangiecta... OMIM:218040
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp... OMIM:602782
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Periventricular cysts, Orofacial cleft, Downturned corners of mouth, Gastr... OMIM:194190
Immunoglobulin A Vasculitis
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Edema, Angioedema, Va... ORPHA:761
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Mohr Syndrome
Median cleft lip, Short stature, Accessory oral frenulum, Hydrocephalus, Porencephalic cyst, Clef... OMIM:252100
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypopl... ORPHA:2318
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Macrocephaly, Intrauterine growth retardation OMIM:300863
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Microcephaly, Flexion contracture, Feeding difficulties, Int... ORPHA:86309
Stickler Syndrome, Type I
Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula OMIM:108300
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Microcephaly, Submucous cleft hard palate, Downturned corn... OMIM:619680
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, ... OMIM:154400
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Microcephaly, Feeding difficulties in infancy, Postnata... OMIM:223370
H Syndrome
Short stature, Malabsorption, Cleft upper lip, Hydrocephalus, Abnormal cardiovascular system phys... ORPHA:168569
Birk-Barel Syndrome
Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Short philtrum, Dysphag... OMIM:612292
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Rhombencephalosynapsis
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Ventriculomegaly, Es... ORPHA:59315
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... ORPHA:100050
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Dextrocardia, Intestinal malrotation, Hypoplasia of the pons, Aqued... OMIM:620305
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesoph... OMIM:607872
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper... OMIM:164210
Fucosidosis
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Thick lower lip ver... OMIM:230000
L1 Syndrome
Nausea and vomiting, Skeletal muscle atrophy, Aganglionic megacolon, Aqueductal stenosis, Hydroce... ORPHA:275543
Branchioskeletogenital Syndrome
Microcephaly, Short neck, Abnormality of the dentition, Carious teeth, Submucous cleft hard palat... ORPHA:1299
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Hy... OMIM:608091
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microce... ORPHA:3047
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Dehydration, Hype... OMIM:263200
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal palate morphology ORPHA:93262
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Gastroin... ORPHA:2152
Aicardi-Goutières Syndrome
Myositis, Cerebral calcification, Multiple joint contractures, Short stature, Cardiomegaly, Micro... ORPHA:51
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... OMIM:617718
Central Neurocytoma
Nausea and vomiting, Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Meckel Syndrome
Encephalocele, Aplasia/Hypoplasia of the tongue, Microcephaly, Situs inversus totalis, Hydrocepha... ORPHA:564
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defe... OMIM:312870
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Osteopetrosis, Autosomal Recessive 2
Persistence of primary teeth, Carious teeth, Hydrocephalus, Hepatosplenomegaly, Facial paralysis OMIM:259710
Muenke Syndrome
High, narrow palate, Hydrocephalus, Macrocephaly ORPHA:53271
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... ORPHA:667
Gaucher Disease
Feeding difficulties in infancy, Hydrops fetalis, Cherry red spot of the macula, Abnormal bleedin... ORPHA:355
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... ORPHA:261537
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Postnatal growth retardation,... ORPHA:536467
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Campomelic Dysplasia
Relative macrocephaly, Irregular dentition, Spina bifida, Polyhydramnios, Carious teeth, Contract... OMIM:114290
Sturge-Weber Syndrome
Conjunctival telangiectasia, Cerebral calcification, Abnormal cerebral vascular morphology, Pulmo... ORPHA:3205
Hemangioblastoma
Nausea and vomiting, Hydrocephalus, Upper limb muscle weakness, Lower limb muscle weakness, Hypoa... ORPHA:252054
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Plasminogen Deficiency, Type I
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, ... OMIM:217090
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... ORPHA:261552
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Esophageal va... ORPHA:731
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Polyhydramnios, Patent ductus arteriosus, Feeding difficulties, Gast... OMIM:618188
Vacterl With Hydrocephalus
Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesop... ORPHA:3412
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, High palate, Vomiting, Short philtrum, Abdominal pain... OMIM:619475
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Polyhydramnios,... OMIM:619841
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... OMIM:619534
Multiple Sulfatase Deficiency
Hepatomegaly, Short stature, Periorbital edema, Splenomegaly, Hydrocephalus, Cerebral atrophy, Ab... OMIM:272200
Multiple Sulfatase Deficiency
Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Hydrocephalus, Macrocephaly, Smooth phil... ORPHA:585
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Cree Mental Retardation Syndrome
Cleft soft palate, Webbed neck OMIM:606851
Tolchin-Le Caignec Syndrome
Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, Narrow mouth, Umb... OMIM:618971
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fist... ORPHA:268249
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... ORPHA:1946
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Corticospinal tract h... OMIM:307000
Gorlin Syndrome
Carious teeth, Abnormality of the neck, Hydrocephalus, Cerebral calcification ORPHA:377
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, CSF pleocytosis, Paralytic ileus... ORPHA:139417
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Relative macrocephaly, Duodenal polyposis, Short neck, Abnormality of canine, Adenomatous colonic... ORPHA:261584
Isolated Posterior Meningocele
Bowel incontinence, Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, ... ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Muscular dystrophy, Hypoplas... OMIM:616538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Broad neck, Ventricular septal defect, Short stature, Abnormal dental pulp morphology, Hydrocepha... ORPHA:363700
Fanconi Anemia, Complementation Group D2
Short stature, Microcephaly, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheo... OMIM:227646
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip tela... OMIM:613471
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Short neck, Deep philtrum, Submucous cleft hard palate... OMIM:619194
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum, Short neck ORPHA:2756
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Anal atresia OMIM:617244
Gracile Bone Dysplasia
Death in infancy, Short stature, Hydrocephalus, Ascites, Ankyloglossia OMIM:602361
Fanconi Anemia, Complementation Group L
Short neck, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Feeding d... OMIM:614083
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Abnormal cerebral white matter morp... ORPHA:395
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosple... ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Dilated third ventricle, Hydrocephalus, Flexion contrac... OMIM:613154
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena, Abdominal pain OMIM:619182
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Protein-losing enteropathy, ... OMIM:619991
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Aortic regurgitation, Facial hypotonia, Short neck, Hepatosplenomega... ORPHA:309282
Rabin-Pappas Syndrome
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal... OMIM:620155
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation OMIM:219730
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Feeding difficulties in infancy, Gastroesophageal reflux, Ho... ORPHA:138
Mend Syndrome
Smooth philtrum, Redundant neck skin, Short stature, Long neck, Hydrocephalus, High palate, Aorti... OMIM:300960
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Facial palsy, Carious teeth, Splenomegaly, Hydrocephalus, Macrocephaly, Facial para... OMIM:259700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Short stature, Hydrocephalus, Flexion contracture, Growth delay, Thin... OMIM:616007
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormal salivary gland morphology, Short stature, Hydrocephalus ORPHA:31
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Cerebral calcification, Short stature, Retinal telangiectasia, Postnatal growth retardation, Leuk... OMIM:612199
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Tented upper lip vermilion, Hydrocephalus, Cerebellar h... OMIM:618476
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... ORPHA:90062
Pfeiffer Syndrome Type 2
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia ORPHA:93259
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Absent septum pellucidum, Congenital diaphragmatic... ORPHA:2556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... ORPHA:2072
Baller-Gerold Syndrome
Severe short stature, Short stature, Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta,... OMIM:218600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Cockayne Syndrome A
Hepatomegaly, Hip contracture, Short stature, Delayed eruption of primary teeth, Microcephaly, Ca... OMIM:216400
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Chronic diarrhea, Cor pulmonale, Furrowed tongue, Melena, Corneal neova... OMIM:158310
Ear-Patella-Short Stature Syndrome
Severe short stature, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft... ORPHA:2554
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Narrow mouth, Agenesis of ... ORPHA:3301
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Dental crowding, Abnormal cortical gyration, ... OMIM:219000
Holoprosencephaly 9
Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Cleft upper lip,... OMIM:610829
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo... OMIM:154500
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramni... ORPHA:51608
Coffin-Siris Syndrome 12
Short stature, Facial palsy, Microcephaly, Celiac disease, Velopharyngeal insufficiency, Submucou... OMIM:619325
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature... ORPHA:3455
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Cystic hygr... OMIM:617866
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Short stature, Abnormal dental enamel mor... ORPHA:2050
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mild postnatal growth retardation, Short stature, Hydrocephalus, Denta... OMIM:101800
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and pala... OMIM:157170
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip OMIM:619122
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Absent septum pellucidum, Facial palsy, Abnormal dental enamel morphology, ... ORPHA:2658
Rift Valley Fever
Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, CSF pleocytosis, Retinal hemorrhage, Macul... ORPHA:319251
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Dental crowding, Congestive heart failure, Arterial rupture, Bruisin... OMIM:225400
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature ORPHA:90795
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Short neck, Postnatal growth ... OMIM:268300
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Delayed eruption of primary teeth, Microcephaly, Postnatal gr... OMIM:133540
Proteus-Like Syndrome
Communicating hydrocephalus, Open bite, Splenomegaly, Hydrocephalus, Venous insufficiency, Macroc... ORPHA:2969
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the dentition, Cardiomegaly ORPHA:349
Coccidioidomycosis
Pericarditis, Broad skull, Hydrocephalus, CSF pleocytosis, Vasculitis, Peritonitis, CSF lymphocyt... ORPHA:228123
Sickle Cell Disease
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Hypertension, Stroke OMIM:603903
Kabuki Syndrome 1
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Malabsorption, M... OMIM:147920
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, High palate, Short stature ORPHA:2720
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... OMIM:256040
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Short stature, Nasogastric tube feeding in infancy, Hydrocep... ORPHA:221120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Diarrhea, Hepatosplenomegaly, Feeding diffic... OMIM:618278
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
Achondroplasia
Death in infancy, Rhizomelia, Polyhydramnios, Megalencephaly, Hydrocephalus, Feeding difficulties... OMIM:100800
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Microce... ORPHA:168577
Focal Dermal Hypoplasia
Delayed eruption of teeth, Short stature, Intestinal malrotation, Congenital diaphragmatic hernia... OMIM:305600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Splenomegaly, Cerebral atrophy, Growth delay, Cardiomyopathy OMIM:616084
Lhermitte-Duclos Disease
Nausea and vomiting, Hydrocephalus, Macroglossia, Macrocephaly, Polymicrogyria ORPHA:65285
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess, C... OMIM:600145
Plague
Abnormal bleeding, Hepatomegaly, Tachycardia, Chapped lip, Anorexia, Abdominal pain, Hematemesis,... ORPHA:707
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Hy... OMIM:619377
Abetalipoproteinemia
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Chronic diarrhea, Myopat... ORPHA:14
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Long philtrum, Atrial septal defect, Camptodactyly OMIM:207410
Pfeiffer Syndrome
Hydrocephalus, High palate, Dental crowding OMIM:101600
Neurofibromatosis, Type I
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, ... OMIM:162200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Wiedemann-Rautenstrauch Syndrome
Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Gene... OMIM:264090
Neuroocular Syndrome
Scapular winging, Short stature, Microcephaly, Short uvula, Submucous cleft hard palate, Downturn... OMIM:619539
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Microphthalmia With Limb Anomalies
Death in infancy, Short stature, Macrodontia, Cleft upper lip, Venous insufficiency, Hydrocephalu... ORPHA:1106
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Vomiting, Nausea OMIM:260500
Crouzon Syndrome
Hydrocephalus, High palate, Dental crowding OMIM:123500
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia OMIM:312190
Otopalatodigital Syndrome, Type Ii
Short stature, Elbow contracture, Spina bifida, Short neck, Postnatal growth retardation, Hydroce... OMIM:304120
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Short stature, Hydrocephalus, Microdontia, Dentinogenesis imperfecta OMIM:112240
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Short stature, Hypoplasia of the tooth germ... OMIM:182250
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Bloody diarrhea,... OMIM:175200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Enlarged polycystic ovaries, High, narrow palate, Hydrocephalus, Flexion contracture, Elbow flexi... ORPHA:95699
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly OMIM:231670
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia, Macrocephaly ORPHA:15
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy ORPHA:199244
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Microcephaly, Hydrocephalus, Tra... OMIM:107480
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding ORPHA:98870
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in infancy, Splenomegaly, Hydrocephalus, Growth delay, Lateral ventricle dila... OMIM:612301
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ... ORPHA:2250
Craniopharyngioma
Nausea and vomiting, Cerebral calcification, Myocardial infarction, Proportionate short stature, ... ORPHA:54595
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypopla... ORPHA:457284
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Bowel incontinence OMIM:236690
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios ORPHA:3016
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Malnutrition, Vomiting, Nausea OMIM:229600
Functioning Gonadotropic Adenoma
Enlarged polycystic ovaries, Hydrocephalus, Ascites, Delayed puberty ORPHA:91348
Cryptococcosis
Hydrocephalus, Peritonitis, Nuchal rigidity, Pleural effusion, Vomiting, Limb muscle weakness, Ce... ORPHA:1546
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Facial hypotonia, Megalencephaly, Long neck, Diffuse white matter ab... ORPHA:457359
Pmm2-Cdg
Thin upper lip vermilion, Pericarditis, Cerebellar vermis hypoplasia, Multiple joint contractures... ORPHA:79318
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Megalencephaly, Long neck, Thick corpus callosum, High palate, Macro... OMIM:617011
Basal Cell Nevus Syndrome 2
Hydrocephalus, Calcification of falx cerebri, Macrocephaly OMIM:620343
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Microcephaly, Hydrocephal... ORPHA:322
Fraser Syndrome 3
Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, Ascites, Oligohydramnios OMIM:617667
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Cerebral cortical atrophy, Smooth p... OMIM:277400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Short stature, Microcephaly ORPHA:220295
47,Xyy Syndrome
Hydrocephalus, Macrocephaly ORPHA:8
Full Nf2-Related Schwannomatosis
Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Dysphagia, Foot dorsiflexor weakness ORPHA:637
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi... OMIM:301000
Caroli Syndrome
Abnormal bleeding, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematem... ORPHA:480520
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Thickened nuchal skin fold, Severe short stature, Short neck, Microcephaly, Submucous cleft hard ... ORPHA:2636
Yellow Fever
Abnormal bleeding, Shock, Nausea, Abdominal pain, Excessive bleeding after a venipuncture, Suprav... ORPHA:99829
Tuberous Sclerosis Complex
Cortical dysplasia, Internal hemorrhage, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Aor... ORPHA:805
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... ORPHA:652
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature, Downturned corners of mouth ORPHA:1064
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Communicating hydrocephalus OMIM:244400
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Macroce... ORPHA:252183
Arachnoiditis
Hydrocephalus ORPHA:137817
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Large Congenital Melanocytic Nevus
Hydrocephalus, Rhabdomyosarcoma ORPHA:626
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Laurin-Sandrow Syndrome
Downturned corners of mouth, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypopla... OMIM:253280
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Deep philtrum ORPHA:1237
Oeis Complex
Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis... OMIM:258040
Hypoplasminogenemia
Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malfo... ORPHA:722
Split Cord Malformation
Bowel incontinence, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, H... ORPHA:573278
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Cleft palate, Anal atresia OMIM:273395
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Neurofibromatosis Type 1
Short stature, Hydrocephalus, Arterial stenosis, Hypertension, Macrocephaly, Neoplasm of the gast... ORPHA:636
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Hydrocephalus, Flexion contracture, Myopathy, Abnormal palate mor... ORPHA:3042
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699

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 Itgav

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 Itgav.

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

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
Itgavtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgavtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itgavtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Itgavtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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