Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
endothelin converting enzyme 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ece1 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.

The table below shows human diseases associated to Ece1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ece1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Mullegama-Klein-Martinez Syndrome
Low-set ears, Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft... OMIM:301022
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Short neck ORPHA:2516
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Protruding ear, Persis... ORPHA:3304
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ovarian cys... OMIM:188400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th... ORPHA:1727
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Abnormality of the middle ear, High palate... ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Heart And Brain Malformation Syndrome
Low-set ears, Interrupted aortic arch, High, narrow palate, Cleft lip, Thick lower lip vermilion,... OMIM:616920
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Long philtrum, Micrognathia, Oligohydramnios, Ventricular septal def... OMIM:617022
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Bifid uvula, Retrognathia, Atrioventricular canal defect, Micrognathia, Abnormal an... ORPHA:3047
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Tetralogy o... ORPHA:2316
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Charge Syndrome
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Ventri... OMIM:214800
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus,... OMIM:617478
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Atresia of the external auditory canal, Hearing impairment, Cryptorchidism... OMIM:601808
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Congestive heart failure, Ascites, Gingival overgrowth, ... OMIM:269920
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Recombinant Chromosome 8 Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Downturned corners of mouth, Thic... OMIM:179613
Lateral Meningocele Syndrome
Low-set ears, High, narrow palate, Craniofacial hyperostosis, Iris coloboma, Conductive hearing i... ORPHA:2789
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Congestive heart fail... OMIM:253250
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Death in infancy, Nonimmune hydrops fet... OMIM:608540
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Ventricular sep... OMIM:265380
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upp... ORPHA:521445
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Cleft upper lip, Abnormal ... OMIM:239800
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Lambotte Syndrome
Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ventricular septal defect, Ma... OMIM:245552
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal abscess, Pericardial effusion, ... OMIM:614684
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... OMIM:300946
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Craniosynostosis And Dental Anomalies
Narrow palate, Hypoplasia of the maxilla, Conductive hearing impairment, Delayed eruption of teet... OMIM:614188
Acrootoocular Syndrome
Low-set ears, High, narrow palate, Conductive hearing impairment, Atresia of the external auditor... ORPHA:2980
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Low-set, posteriorly rotated ears, Intestinal malrotation, Microgna... ORPHA:2166
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Se... OMIM:612562
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Mottled pigmentation, Elevated circulat... ORPHA:226316
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Short man... OMIM:141400
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... OMIM:609166
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, High, narrow palate, Abnormality of the d... ORPHA:3378
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormality of the parathyroid gland, Atresia of the external auditory canal, Micro... ORPHA:3429
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Micrognathia, Crypto... OMIM:619503
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, High pa... ORPHA:85212
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Ritscher-Schinzel Syndrome 1
Low-set ears, Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone... OMIM:220210
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Thrombocytopenia, Wide ... OMIM:619981
Verheij Syndrome
Truncus arteriosus, Short neck, Branchial cyst, Ventricular septal defect OMIM:615583
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia... OMIM:610536
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal dental enamel mor... ORPHA:3236
Catel-Manzke Syndrome
Oral synechia, Low-set, posteriorly rotated ears, Micrognathia, Malar flattening, Ventricular sep... ORPHA:1388
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Kapur-Toriello Syndrome
Low-set ears, Iris coloboma, Atresia of the external auditory canal, Tetralogy of Fallot, Intesti... ORPHA:2328
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Atresia of the external audi... OMIM:106260
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Polycystic ovaries, Ve... ORPHA:1770
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Lo... ORPHA:1488
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa... OMIM:613309
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Microgn... OMIM:620070
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Narrow mouth, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impa... OMIM:235510
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Abnormality of the dentition, Chronic otitis media, Conductive hearing impairment, Atresia of the... OMIM:221320
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Retrognathia, Stenosi... ORPHA:107
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:615546
Mycophenolate Mofetil Embryopathy
Atresia of the external auditory canal, Hearing impairment, Anotia, Micrognathia, Ventricular sep... ORPHA:268249
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Parachute mitral valve, Long philtrum, Large earlobe, Tetralogy of Fallot, Intestin... OMIM:618316
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Unilateral cleft lip, Large fleshy ears, Hypertrophic cardiomyopathy, Ascites, Micr... OMIM:616897
Otofaciocervical Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal antihelix morphol... ORPHA:2792
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Ventricular ... OMIM:146510
14Q11.2 Microdeletion Syndrome
Long philtrum, Low-set, posteriorly rotated ears, Melanocytic nevus, Micrognathia, Narrow mouth, ... ORPHA:261120
Perlman Syndrome
Low-set ears, Interrupted aortic arch, Distal ileal atresia, Visceromegaly, Volvulus, Everted upp... OMIM:267000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Progressive sensorineural hearing impairment, Abnormal heart morphology, ... ORPHA:2237
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Feingold Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Everted lower lip verm... OMIM:164280
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micrognathia, Malar flattening, Preductal coarctation of the aorta, Stillbirth, Po... OMIM:215045
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hearing impairment, Stillbirth, Cleft upper lip, Micrognathia, Adrenal hypoplasia, Abnormal cardi... OMIM:308050
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Atresia of the external auditory canal, Ventricular septal defect OMIM:209770
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa... ORPHA:101028
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Tetralogy of Fallot,... OMIM:614701
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:601186
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Long philtrum, Ascites, Villous atrophy, Fetal skin edema, Splenomegaly, Decreased ... OMIM:608776
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Death in childhood, Ascites OMIM:256150
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Pallister-Hall Syndrome
Auricular tag, Atresia of the external auditory canal, Natal tooth, Hypopituitarism, Central adre... ORPHA:672
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta... OMIM:619825
Nager Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... ORPHA:245
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Death in infancy, Fetal akin... OMIM:618815
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Craniofacioskeletal Syndrome
Interrupted aortic arch, Micrognathia, Absent gallbladder, Cryptorchidism, Hypoplastic frontal si... OMIM:300712
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Atresia of the external auditory canal, Hearing impairment, Intestinal pseud... OMIM:243180
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ... ORPHA:2008
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Narrow mouth... OMIM:602471
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating... ORPHA:90674
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... ORPHA:226307
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:601390
16P13.11 Microdeletion Syndrome
Low-set ears, Atresia of the external auditory canal, Cleft upper lip, Cryptorchidism, Exaggerate... ORPHA:261236
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Sensorineural... OMIM:256550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hy... ORPHA:295
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Reduced left ventricular ejection fraction, Abnormal autonomic nerv... ORPHA:314652
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Auriculocondylar Syndrome 2A
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... OMIM:614669
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Meckel Syndrome, Type 8
Low-set ears, Cleft upper lip, Anhydramnios, Pericardial effusion, Enlarged kidney, Cleft palate OMIM:613885
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Microretrognathia, Increased nuchal translucency, Nar... ORPHA:261344
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external ... OMIM:123500
Fetal Akinesia Deformation Sequence 4
Low-set ears, Retrognathia, Micrognathia, Absence of stomach bubble on fetal sonography, Cryptorc... OMIM:618393
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Median cleft palate, Microtia ORPHA:2213
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Low-set ears, Optic atrophy, Cardiomyopathy, Micrognathia, Pericardial effusion, High palate, Bil... OMIM:620089
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Megarectum, Hearing impairment, Retrognathia, Large earlobe, Leukopenia, Polyhydram... OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Atresia of the external auditory canal, Stenosis of the external aud... OMIM:614900
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Widely spaced teeth, Thick upper lip vermilion, Decreased fetal movement, Ventricul... OMIM:619717
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Cryptorchidism, Sensorineural hearing impa... ORPHA:250989
Apert Syndrome
Bifid uvula, Dental malocclusion, Hearing impairment, Delayed eruption of teeth, Cryptorchidism, ... OMIM:101200
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... ORPHA:2010
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Micrognathia, Abnormal lower lip morphology, Abnormal aortic... ORPHA:1166
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Velopharynge... OMIM:154400
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Polyhydramnios, Splenomegaly, ... OMIM:619462
Noonan Syndrome 2
Low-set ears, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bic... OMIM:605275
Alg9-Cdg
Low-set ears, Large fleshy ears, Micrognathia, Ventricular septal defect, Atrial septal defect, H... ORPHA:79328
Atelis Syndrome 1
Irregular hyperpigmentation, Carious teeth, Long philtrum, Leukopenia, Glue ear, Ventricular sept... OMIM:620184
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Lymphatic Malformation 6
Hearing impairment, Micrognathia, Atrial septal defect, Periorbital edema, Abnormal pinna morphol... OMIM:616843
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele ORPHA:217
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Polyhydramnios, Ventricular sept... ORPHA:3405
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... ORPHA:138
Emanuel Syndrome
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Delayed eruption of primary... OMIM:609029
Gm1 Gangliosidosis
Low-set ears, Optic atrophy, Cardiomyopathy, Congestive heart failure, Cherry red spot of the mac... ORPHA:354
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... OMIM:115197
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Hennekam Syndrome
Low-set ears, Arteriovenous malformation, Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, ... ORPHA:2136
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Thin uppe... ORPHA:163979
Catel-Manzke Syndrome
Low-set ears, Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Cryptorchidism, Ventricul... OMIM:616145
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Gaucher Disease, Perinatal Lethal
Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m... OMIM:608013
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Lymphedema, Thick upper lip vermilion, T... OMIM:239850
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect, Fetal akinesia sequence, Breech presentation, Polyhydram... OMIM:615731
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal heart morphology,... OMIM:154500
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Microcytic anem... ORPHA:90308
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Pyloric stenosis OMIM:133705
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusi... ORPHA:36412
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomeg... OMIM:614702
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc... ORPHA:846
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Increased placental thickness, Abnormal heart morphology, Micrognathia, Narrow mout... ORPHA:1865
Long-Olsen-Distelmaier Syndrome
Low-set ears, Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defe... OMIM:620609
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Mitral regurgitation, Cryptorc... ORPHA:904
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, Duodenal atresia, Abnormal heart morpholo... ORPHA:391641
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... ORPHA:3216
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
Deafness, X-Linked 7
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... OMIM:301018
Sialidosis Type 2
Hearing impairment, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Fibrochondrogenesis 1
Low-set ears, Long philtrum, Narrow mouth, Malar flattening, Patent foramen ovale, Stillbirth, Hy... OMIM:228520
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Death in inf... ORPHA:1393
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Streak ovary, Micrognathia... ORPHA:798
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Death in infancy, Hepatomegaly, Pul... OMIM:619433
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Phenobarbital Embryopathy
Low-set ears, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnormal mitral valve ... ORPHA:1919
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Neurofaciodigitorenal Syndrome
Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Atresia of the exter... ORPHA:2673
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Mosaic Trisomy 9
Low-set ears, Abnormal heart valve morphology, Intestinal malrotation, Endocardial fibroelastosis... ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Pigmentary retinopathy, Hearing impairment, Colonic atresia, Ante... OMIM:309801
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... ORPHA:51608
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... ORPHA:2255
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, High, narrow palate, Hypoplasia of the maxilla, Micro... ORPHA:2554
Primary Ciliary Dyskinesia
Conductive hearing impairment, Hearing impairment, Polysplenia, Atrial situs ambiguous, Recurrent... ORPHA:244
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Congenital Disorder Of Glycosylation, Type Ia
Edema, Cardiomyopathy, Steatorrhea, Stroke-like episode, Villous atrophy, Death in childhood, Dea... OMIM:212065
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Conductive hearing impairment, Atresia of the external auditory canal, Steno... OMIM:608257
Emanuel Syndrome
Aortic valve stenosis, Delayed eruption of teeth, Redundant neck skin, Truncus arteriosus, Ventri... ORPHA:96170
Mgat2-Cdg
Prominent antihelix, Dental crowding, Abnormal earlobe morphology, Low-set, posteriorly rotated e... ORPHA:79329
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Tooth malposition, Aortic root aneurysm, Periodontitis, Prominent veins on trunk, ... ORPHA:536532
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hematochezia, Protein-losing enteropathy, Anasarca, Elevated circulating thyroid-st... OMIM:618183
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, A... OMIM:123790
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:311895
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Abnormality of the outer ear, Dilated cardiomyopathy, Abnormality of retinal... ORPHA:2515
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Combined Oxidative Phosphorylation Deficiency 57
Diabetes insipidus, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, D... OMIM:620167
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology, Short neck ORPHA:2001
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T... OMIM:616738
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Abnormal B cell morphology, Cleft lip, Cupped ear, Ectopia pupillae, Decreased resp... OMIM:618223
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm... OMIM:619313
Barber-Say Syndrome
Atresia of the external auditory canal, Hearing impairment, Delayed eruption of teeth, Breast apl... ORPHA:1231
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Thrombocytosis, Short lingual frenulum, Adr... ORPHA:79500
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impairment, Dental crowdi... OMIM:616367
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Patent ductus a... ORPHA:2123
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Alg8-Cdg
Low-set ears, Optic atrophy, Ascites, Oligohydramnios, Thrombocytopenia, Anemia, Macroglossia, Hy... ORPHA:79325
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Alg3-Cdg
Hypopigmentation of the skin, Hearing impairment, Cardiomyopathy, Abnormality of the endocrine sy... ORPHA:79321
Alkuraya-Kucinskas Syndrome
Low-set ears, Micrognathia, Pleural effusion, Pericardial effusion, High palate, Posteriorly rota... OMIM:617822
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment, Tetralo... ORPHA:3186
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... OMIM:306955
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse OMIM:604308
Neurooculocardiogenitourinary Syndrome
Low-set ears, Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, Pat... OMIM:618652
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Fryns Syndrome
Micrognathia, Cryptorchidism, Anal atresia, High palate, Non-midline cleft of the upper lip, Duod... ORPHA:2059
Meier-Gorlin Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairme... OMIM:224690
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Tongue atrophy, Poliosis, Short ... OMIM:141300
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:1508
Transaldolase Deficiency
Low-set ears, Hepatosplenomegaly, Pancytopenia, Oligohydramnios, Splenomegaly, Patent foramen ova... OMIM:606003
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Achondrogenesis
Long philtrum, Micrognathia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:932
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
14Q22Q23 Microdeletion Syndrome
Cupped ear, Atresia of the external auditory canal, Hearing impairment, Downturned corners of mou... ORPHA:264200
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal ... ORPHA:261330
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis OMIM:613124
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Brooke-Spiegler Syndrome
Hearing impairment, Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormal au... ORPHA:79493
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism... ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death OMIM:619003
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, High, narrow palate, Hearing impairment, Anteriorly placed anus, Long philtrum, Rec... OMIM:618494
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Decreased fetal movement, Prominence of the premaxilla, Double outlet right ventr... OMIM:614886
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Abnormal cardiac ventricle morphology, Xerostom... ORPHA:85443
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricula... OMIM:612946
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Glycogen Storage Disease Iv
Edema, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased fetal movement... OMIM:232500
Lymphatic Malformation 13
Fetal pericardial effusion, Fetal pleural effusion, Long philtrum, Lymphedema, Ascites, Mitral re... OMIM:620244
Achondrogenesis Type 1B
Long philtrum, Micrognathia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93298
Giant Cell Arteritis
Optic atrophy, Vasculitis, Epistaxis, Conductive hearing impairment, Hearing impairment, Mediasti... ORPHA:397
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Cleft lip, Tricuspid regurgitation, Left ventricula... OMIM:620519
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue, Facial palsy OMIM:155900
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Micrognathia, Ventricular septal de... ORPHA:1913
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Breech presentation, Increased myocardial glycogen co... OMIM:261740
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Wide mouth, Exaggerated cupid's bow, Ventricular septal defect, Posteriorly rotated... OMIM:618506
Tetrasomy 15Q26
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Myhre Syndrome
Low-set ears, Aortic valve stenosis, Hypoplasia of the maxilla, Mandibular prognathia, Cleft lip,... OMIM:139210
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Achondrogenesis Type 1A
Long philtrum, Micrognathia, Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93299
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormality of the dentition, Microretrognathia, Tetralogy of Fallot, Abnormality o... ORPHA:276422
Frank-Ter Haar Syndrome
Low-set ears, Secundum atrial septal defect, Dental malocclusion, Micrognathia, Wide mouth, Gingi... OMIM:249420
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,... OMIM:602483
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Diabetic Embryopathy
Hearing impairment, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Micrognathia, Cryptor... ORPHA:1926
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Leukopenia, Leukocytosis, Abnormal ma... ORPHA:292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Micrognathia, Narrow mouth, Breech presentation, Atrial septal defect, Hepato... OMIM:300868
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Free Sialic Acid Storage Disease
Iris hypopigmentation, Ascites, Splenomegaly, Abnormality of skin pigmentation, Hepatomegaly, Hyd... ORPHA:834
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Hearing impairment, Downturned corners of mouth, Tetralogy ... ORPHA:163956
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Retrognathia, Cardiomyopathy, Hyperplasia of the maxilla, ... OMIM:300280
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif... ORPHA:137888
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cardiomyopathy, Cherry red spot of the macula, Long philtrum, H... ORPHA:79255
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Achondrogenesis, Type Ib
Malar flattening, Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Macrotia OMIM:613576
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Pituitary hypoth... ORPHA:1435
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Everted lower lip vermilion, Cerebral edema, High palate, Iris coloboma, Tricuspi... OMIM:620371
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defe... OMIM:617506
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Fetal chylothorax, Lymphedema,... OMIM:620014
Distal Deletion 15Q
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Bicuspid aortic valve, Patent duc... ORPHA:1596
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Vent... OMIM:615524
Pfeiffer Syndrome Type 2
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Malar flattening, H... ORPHA:93259
Fraser Syndrome 1
Low-set ears, Difficulty in tongue movements, Cupped ear, Atresia of the external auditory canal,... OMIM:219000
Stapes Ankylosis With Broad Thumbs And Toes
Congenital stapes ankylosis, Conductive hearing impairment, Stapes ankylosis OMIM:184460
Combined Oxidative Phosphorylation Deficiency 42
Hearing impairment, Cardiomyopathy, Death in infancy, Nonimmune hydrops fetalis, Neonatal death, ... OMIM:618839
Li-Campeau Syndrome
Low-set ears, Long philtrum, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hyp... OMIM:619189
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cherry red spot of... OMIM:230500
Chromosome 15Q14 Deletion Syndrome
Low-set ears, Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal def... OMIM:616898
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Premature birth, Atrioventricular canal defect, ... ORPHA:40366
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Low-set, posteriorly rotated ears, Furrowed tongue, Micrognathia, Abnormal ant... ORPHA:1387
Combined Oxidative Phosphorylation Deficiency 40
Hearing impairment, Hypertrophic cardiomyopathy, Death in infancy, Nonimmune hydrops fetalis, Neo... OMIM:618835
Congenital Toxoplasmosis
Hearing impairment, Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Lym... ORPHA:858
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Mandibular pr... ORPHA:3434
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Cornelia De Lange Syndrome
Atresia of the external auditory canal, Micrognathia, Cryptorchidism, Sensorineural hearing impai... ORPHA:199
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios, High palate, Facial palsy OMIM:255320
Combined Oxidative Phosphorylation Defect Type 27
Hearing impairment, Nonimmune hydrops fetalis ORPHA:477774
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Cleft lip, Conductive hearing impairment, Atresia of the external auditory canal, ... OMIM:603457
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairment, V... OMIM:300166
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm, Mitral valve prolapse OMIM:129600
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... ORPHA:920
Monosomy 9P
Low-set ears, Abnormality of the dentition, Atresia of the external auditory canal, Long philtrum... ORPHA:261112
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Thick vermilion border, Tela... OMIM:137940
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Sensorineural hearing... ORPHA:17
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Hep... ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv
Wide anterior fontanel, Increased RBC distribution width, Persistence of hemoglobin F, Hypertroph... OMIM:613673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Optic atrophy, Atresia of the external auditory canal, Cleft upper lip, Micrognathi... OMIM:236670
Blomstrand Lethal Chondrodysplasia
Low-set ears, Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening, Coar... ORPHA:50945
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Hypotension, Long philtrum, Micrognathia, Increased nuchal translucency, Wide mouth... OMIM:615668
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis OMIM:616559
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Open mouth, Ventricular septal defect, Everted lower lip vermilion, Uplifted earlobe, Hepatomegal... OMIM:280000
Suleiman-El-Hattab Syndrome
Low-set ears, Microretrognathia, Hearing impairment, Downturned corners of mouth, Long philtrum, ... OMIM:618950
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Cranioectodermal Dysplasia 2
Low-set ears, Micrognathia, Atrial septal defect, Everted lower lip vermilion, Hepatomegaly, High... OMIM:613610
Tyshchenko Syndrome
Low-set ears, High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricul... OMIM:615102
Aymé-Gripp Syndrome
Low-set ears, Long philtrum, Stenosis of the external auditory canal, Breast hypoplasia, Narrow m... ORPHA:1272
Cardiomyopathy, Familial Restrictive, 3
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... OMIM:612422
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... OMIM:608227
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Broad secondary alveolar ridge, Micrognathia, Cryptorchidism, V... ORPHA:3472
Congenital Syphilis
Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepa... ORPHA:499009
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Mucopolysaccharidosis, Type Vii
Hearing impairment, Cardiomyopathy, Widely spaced teeth, Recurrent otitis media, Abnormal heart v... OMIM:253220
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Zellweger Syndrome
Optic atrophy, Premature birth, Micrognathia, Primary adrenal insufficiency, Cryptorchidism, Deat... ORPHA:912
17Q24.2 Microdeletion Syndrome
Tooth malposition, Otosclerosis, Recurrent otitis media, Micrognathia, Progressive conductive hea... ORPHA:529962
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Malar flattening, Polyhydramnios, Hydrops fetalis, Cleft palate ORPHA:85166
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal cartilage mor... ORPHA:2396
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Pulmonary embolism, ... ORPHA:79282
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios, Cryptorch... ORPHA:1263
Chédiak-Higashi Syndrome
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... ORPHA:167
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmia, Hepatomegaly, Abn... ORPHA:580
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Abnormal heart morphology, Mic... ORPHA:314588
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Cryptorchidism, Mitral valve prolap... ORPHA:193
Craniofacial Microsomia 1
Atresia of the external auditory canal, Unilateral external ear deformity, Underdeveloped tragus,... OMIM:164210
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmi... ORPHA:217085
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Pearson Syndrome
Hearing impairment, Pancytopenia, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic sple... ORPHA:699
Tarp Syndrome
Low-set ears, Optic atrophy, Premature rupture of membranes, Prominent antihelix, Subdural hemorr... OMIM:311900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Abnormal cardiomyo... ORPHA:367
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Death in childhood, Decreased fetal movement, Ventricular septal defect, A... OMIM:253300
Warburg-Cinotti Syndrome
Low-set ears, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atresia of the exte... OMIM:618175
Holoprosencephaly 13, X-Linked
Low-set ears, Hypoplastic left heart, Hearing impairment, Duodenal atresia, Micrognathia, Median ... OMIM:301043
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Oligohydramnios, Na... OMIM:617666
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse ORPHA:171881
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmi... ORPHA:217093
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Lymphopenia, Pleural effusion, Abnormal ... ORPHA:90362
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Absent nipple, Ankyloglossia, Micrognathia, Ventricular septal d... OMIM:618021
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate... ORPHA:124
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Pleural effusion, Oral ulcer... ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Nonimmune hydrops fetalis, Cardiomegaly, Decreased circulating cortisol level... OMIM:618838
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Hypopigmented skin patches, Micrognathia, Narrow... ORPHA:567
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Downturned corners of mouth, Thick lower lip vermilion, Recurre... OMIM:618027
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
German Syndrome
Lymphedema, Tetralogy of Fallot, Micrognathia, Hearing abnormality, Cryptorchidism, Open mouth, O... ORPHA:2077
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Pulmonary lymphangiectasia... OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Macrotia, Congestive heart failure OMIM:300886
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Mitral valve prolapse, Aortic aneurysm OMIM:166200
Burn-Mckeown Syndrome
Bifid uvula, Conductive hearing impairment, Hearing impairment, Cleft upper lip, Micrognathia, Na... OMIM:608572
Orofaciodigital Syndrome V
Low-set ears, Bifid uvula, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ankylogl... OMIM:174300
Aicardi-Goutieres Syndrome 9
Optic atrophy, Ascites, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension, Pericardial ef... OMIM:619487
3C Syndrome
Low-set ears, Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular ... ORPHA:7
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Stillbirth, Polyhydramnios, Hydrops fetalis, Cleft palate, Edema OMIM:200610
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Multiple Synostoses Syndrome 1
Asymmetry of the mouth, Bilateral conductive hearing impairment, Conductive hearing impairment, S... OMIM:186500
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality of the dentition, H... OMIM:182290
Oculoauriculofrontonasal Syndrome
Cleft lip, Conductive hearing impairment, Micrognathia, Narrow mouth, Ventricular septal defect, ... ORPHA:398156
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Noonan Syndrome 8
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Cryptorchidism... OMIM:615355
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Secundum atrial septal defect, Conductive hearing impairment, Aglossi... OMIM:202650
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Greenberg Dysplasia
Low-set ears, Bone marrow hypocellularity, Hypoplasia of the maxilla, Retrognathia, Hepatosplenom... OMIM:215140
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Cryptorchidism, Protruding tongue, Ventri... OMIM:612938
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Retrognathia, Micrognathia, Ventricular septal defect, Atrial septal defect, High p... OMIM:618142
Costello Syndrome