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Gene: Ece1 MGI:1101357

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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:
endothelin converting enzyme 1
Synonyms:
N/A

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent d... OMIM:613870
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Sensorineural hearing impair... ORPHA:388
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500

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
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral fren... ORPHA:79113
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Micrognathia, Cleft lip, Sensorineural hearing impairment... OMIM:301022
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
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
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... ORPHA:229
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P... ORPHA:3304
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Con... ORPHA:861
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno... ORPHA:2549
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Polyhydramnios, Wide anter... OMIM:616920
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Anterior creases of earlobe, Hypoplastic l... ORPHA:1727
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Atrial septal defect, ... OMIM:620186
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Fetal akinesia sequence,... OMIM:617022
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Microgna... ORPHA:3047
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Johnson Neuroectodermal Syndrome
Facial palsy, Carious teeth, Cleft palate, Protruding ear, Multiple cafe-au-lait spots, Microtia,... ORPHA:2316
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... OMIM:214800
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypopla... OMIM:106260
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Downturned corners ... OMIM:601808
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated l... OMIM:269920
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Posteriorly rotated ears, Ventricular septal defect, Dental crowding, ... ORPHA:2789
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hy... OMIM:253250
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abno... OMIM:179613
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Micrognathia, Atrial sep... OMIM:265380
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Hepatomegaly, Nonimmune hydrops fetalis, Micrognathia, Splenomegaly, Cardiomyop... OMIM:608540
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Vertebrobasilar dolichoectasia... ORPHA:521445
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Microtia, Atresia of the ... OMIM:239800
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Lambotte Syndrome
Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ma... OMIM:245552
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Pericardial effusion, Cryptorchidism, Perian... OMIM:614684
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hyperpigmented ... ORPHA:2980
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, In... ORPHA:2166
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Stapes ankylosis, Delayed eruption of teeth, Papilledema, Dental crowding,... OMIM:614188
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Edema, Thyroid defect in oxidation and organifica... ORPHA:226316
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:141400
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ... ORPHA:3429
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Death in infancy, Decreased fetal ... ORPHA:85212
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism, Sensor... ORPHA:3378
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... ORPHA:3236
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... OMIM:300946
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... OMIM:619981
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Pate... OMIM:612562
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Kapur-Toriello Syndrome
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Patent ductus arteri... ORPHA:2328
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,... OMIM:610536
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Fe... OMIM:619503
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormality of the philtrum, Non-mi... ORPHA:1770
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Anteriorly placed anus, Atresia of ... ORPHA:1488
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Patent duct... OMIM:613309
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Edema, Elevated circulating thyroid-stimulating hormone concen... ORPHA:90673
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Hypergonadotropic hypogonadism, Abnormality of the middle... ORPHA:90646
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Micrognathia,... ORPHA:1388
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Wide mou... OMIM:608776
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Decreased fetal movement, Polyhydramnios, Micrognathia, Pericardial effusion, C... OMIM:620070
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Hydrops fetalis, Orofacial cleft, Coarctation of aorta, ... ORPHA:268249
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Micrognathia, Hydrops fetalis, Stillbirth, Preduc... OMIM:215045
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath... ORPHA:261120
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:615546
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, High palate, Atresia of the external auditory cana... ORPHA:2792
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Micrognathia, ... OMIM:616897
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Posteriorly rotated ears, Underfolded helix, Parachute mitral valve, Ve... OMIM:618316
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Abnormal heart morphology, Parathyroid hypop... ORPHA:2237
Feingold Syndrome 1
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent... OMIM:164280
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal, Abno... OMIM:221320
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Atresia of the external auditory canal OMIM:209770
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hearing impairment, Micrognathia, Cleft upper lip, Adrenal hypoplasia, Stillbirth, Abnormal cardi... OMIM:308050
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Edema, Polyhydramn... OMIM:267000
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor... ORPHA:101028
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood OMIM:256150
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... ORPHA:672
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... ORPHA:245
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... ORPHA:980
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... OMIM:619825
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... OMIM:300712
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction... OMIM:243180
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Sensorineural hea... OMIM:256550
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetali... OMIM:618815
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... ORPHA:295
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... OMIM:601390
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal vascular morphology, Abnormality of the tongue, Reduced left ven... ORPHA:314652
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Facial edema, Decreased circulating T4 concentration... ORPHA:90674
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Cleft upper lip, Cr... ORPHA:261236
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... OMIM:614669
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Meckel Syndrome, Type 8
Cleft upper lip, Pericardial effusion, Cleft palate, Anhydramnios, Low-set ears, Enlarged kidney OMIM:613885
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Cryptorchidism, High palate, Atresia of the external auditory canal, Narrow mouth, ... OMIM:602471
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Trisomy 1Q
Microretrognathia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arter... ORPHA:261344
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Bicuspid aortic valve, Anemia of inadequate production, Bone marrow hypoc... OMIM:614900
Charge Syndrome
Polyhydramnios, Hypoplasia of the semicircular canal, Iris coloboma, Low-set, posteriorly rotated... ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Down Syndrome
Prenatal double bubble sign, Atrial septal defect, Conductive hearing impairment, Atrioventricula... OMIM:190685
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Micrognathia, Pericardial effusion, Optic atrophy, Cardiomyopathy, High palate, Bilateral sensori... OMIM:620089
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Ventricular septal defect, Posteriorly rotated ears, Patent ductus arte... OMIM:619717
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct... OMIM:618164
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Optic atrophy, High palate, At... OMIM:123500
Fetal Akinesia Deformation Sequence 4
Decreased fetal movement, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Cryptorchidism,... OMIM:618393
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Optic nerve hy... OMIM:301056
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Median cleft lip... ORPHA:2213
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... ORPHA:2010
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... OMIM:600001
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... ORPHA:1041
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Acrofacial Dysostosis 1, Nager Type
Posteriorly rotated ears, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Cleft u... OMIM:154400
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Protruding ear, Tooth agen... ORPHA:1166
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Lymphatic Malformation 6
Edema, Lymphedema, Facial edema, Polyhydramnios, Periorbital edema, Micrognathia, Atrial septal d... OMIM:616843
Alg9-Cdg
Villous atrophy, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular dilatation, ... ORPHA:79328
Gm1 Gangliosidosis
Mandibular prognathia, Ventricular septal defect, Premature birth, Splenomegaly, Patent ductus ar... ORPHA:354
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar... ORPHA:3405
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormal cardiac sept... ORPHA:250989
Emanuel Syndrome
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t... OMIM:609029
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
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
Hennekam Syndrome
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... ORPHA:2136
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cr... OMIM:101200
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Cardiomegaly, Micrognathia, Neonatal death, Hepatomegaly, Premature birth, Nonimm... OMIM:608013
Atelis Syndrome 1
Glue ear, Ventricular septal defect, Carious teeth, Anemia, Leukopenia, Microtia, High palate, Lo... OMIM:620184
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... ORPHA:163979
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic an... ORPHA:90308
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Breech presenta... OMIM:615731
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Micrognathia, Cleft upper lip, Cryptor... OMIM:616145
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal OMIM:133705
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Atresia of the external auditory canal OMIM:601356
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... OMIM:154500
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... OMIM:614702
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Dyssegmental Dysplasia, Silverman-Handmaker Type
Posteriorly rotated ears, Miscarriage, Micrognathia, Cryptorchidism, Hydrops fetalis, Cleft palat... ORPHA:1865
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Micrognathia, Esophageal atresia, Sensorineural hearing impa... ORPHA:391641
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Sensorineural ... ORPHA:36412
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Fibrochondrogenesis 1
Abnormal pinna morphology, Wide anterior fontanel, Hydrops fetalis, Cleft palate, Stillbirth, Low... OMIM:228520
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Deafness, X-Linked 7
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... OMIM:301018
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal defect, Micrognathia ORPHA:1918
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Hearing impairment ORPHA:87876
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Mi... ORPHA:904
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis... OMIM:619433
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, My... ORPHA:798
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... OMIM:221300
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atresia of... ORPHA:1393
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Phenobarbital Embryopathy
Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Mala... ORPHA:1919
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Aspleni... ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Cleft palate, Anteri... OMIM:309801
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gallbladder, Atrial septa... ORPHA:2255
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... ORPHA:51608
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Crypto... ORPHA:2554
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... OMIM:608257
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Death in infancy, Villous atrophy, Nonimmune hydrops fetalis, Edema, ... OMIM:212065
Mgat2-Cdg
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... ORPHA:79329
Emanuel Syndrome
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Patent ductus arterios... ORPHA:96170
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck ORPHA:2001
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Posteriorly rotated ears, Optic atrophy, Gingival overgrowth, Narrow palate, Anterio... OMIM:123790
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardi... OMIM:620167
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Ventricular septal defect, High, narrow palate, Dilated card... ORPHA:2515
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Diabetes mellitus, Carotid artery stenosis, Micrognathia, Pericardial effusion, Crypt... ORPHA:536532
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia,... ORPHA:2123
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Breast aplasia, Hypoplastic nip... ORPHA:1231
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Asplenia, Situs inve... ORPHA:244
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramni... ORPHA:79500
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Alg8-Cdg
Premature birth, Edema, Thrombocytopenia, Optic atrophy, Hydrops fetalis, Macroglossia, Low-set e... ORPHA:79325
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Elevated ci... OMIM:618183
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Alkuraya-Kucinskas Syndrome
Posteriorly rotated ears, Edema, Micrognathia, Pericardial effusion, High palate, Low-set ears, P... OMIM:617822
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Median cleft lip, Orofacial cleft, Atresia of the external ... ORPHA:3186
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Alg3-Cdg
Abnormal pinna morphology, Abnormality of the endocrine system, Coarctation of the descending aor... ORPHA:79321
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum ORPHA:932
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... OMIM:306955
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Patent duc... OMIM:606003
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Meier-Gorlin Syndrome 1
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Narrow mouth, Breech p... OMIM:224690
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops f... OMIM:232500
Hadziselimovic Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Ventricular septal defect, Thick lower lip ver... OMIM:612946
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Decreased fetal movement, Posteriorly rotated ears, Anterior pituitary hypop... ORPHA:264200
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, High p... ORPHA:2059
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an... ORPHA:261330
Brooke-Spiegler Syndrome
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the subl... ORPHA:79493
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Hepatomegaly, Abnormal EKG, ... ORPHA:85443
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum ORPHA:93298
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... ORPHA:371428
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... OMIM:270100
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Prominence of the premaxilla, Wide anterior fontanel, Patent ductus art... OMIM:614886
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Delayed... OMIM:618506
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Melkersson-Rosenthal Syndrome
Facial edema, Facial palsy, Furrowed tongue OMIM:155900
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Senso... OMIM:618652
Giant Cell Arteritis
Glossitis, Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Mediastinal lymphad... ORPHA:397
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum ORPHA:93299
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Micrognathia, Hydrops fetalis, Abnormality of skin pigmentation, Downturned corne... OMIM:300868
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Secundum atrial septal defect,... OMIM:249420
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... ORPHA:45452
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of skin pigmentation, Ascites, Iris hypo... ORPHA:834
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Fetal peric... OMIM:620244
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele test... OMIM:616738
Poems Syndrome
Papilledema, Diabetes mellitus, Hyperpigmentation of the skin, Edema, Pericardial effusion, Hypot... ORPHA:2905
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... ORPHA:292
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... OMIM:602483
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,... OMIM:618280
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Malar flattening OMIM:600972
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Ventricular septal defect, Death in infancy OMIM:614876
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft... ORPHA:1926
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, ... ORPHA:324410
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... ORPHA:1913
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo... OMIM:618775
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defe... OMIM:618494
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hydrops fetalis, Polyhydramnios, Hepatomegaly ORPHA:2204
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... OMIM:300280
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,... OMIM:139210
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Macrotia, Cardiomegaly OMIM:613576
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Abnormal ... ORPHA:79255
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Lateral Meningocele Syndrome
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the mi... OMIM:130720
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patchy hypo- and hyperpigmen... ORPHA:163956
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Cleft... OMIM:616898
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Ventricular septal defect, Tongue fasciculations, Death in childhood, A... OMIM:253300
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Low-set ears, Chron... ORPHA:276422
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... OMIM:230500
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Premature birth, Micrognathia, Cupped ear, Conotruncal defect,... ORPHA:40366
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Facial palsy, Polyhydramnios, Hydrops fetalis, High palate OMIM:255320
Pfeiffer Syndrome Type 2
Intestinal malrotation, Cleft palate, High palate, Atresia of the external auditory canal, Low-se... ORPHA:93259
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Low 1-minut... ORPHA:1596
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... OMIM:618839
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Thickened ... OMIM:617506
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... OMIM:618835
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Premature birth, Cardiomegaly, Lymphadenopathy... ORPHA:858
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment, Abnormal salivary gland morphology ORPHA:3225
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis, Hearing impairment ORPHA:477774
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... OMIM:615524
Li-Campeau Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Low-set ears... OMIM:619189
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hydro... OMIM:620014
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft ORPHA:3434
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Abnormality of skin pigmentation, Wide mouth, Microtia, Hypoplasia of ... ORPHA:920
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Patent ductus arteriosus, Sensorineural hearing impairment, Orofacial cleft, Coarct... ORPHA:17
Trisomy 8P
Posteriorly rotated ears, Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis... ORPHA:264450
Blomstrand Lethal Chondrodysplasia
Natal tooth, Premature birth, Polyhydramnios, Micrognathia, Protruding tongue, Hydrops fetalis, C... ORPHA:50945
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cornelia De Lange Syndrome
Micrognathia, Downturned corners of mouth, Widely spaced teeth, High palate, Atrial septal defect... ORPHA:199
Microphthalmia, Syndromic 2
Anteverted ears, Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Iris coloboma, B... OMIM:300166
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, F... ORPHA:1387
Noonan Syndrome 9
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck OMIM:616559
Monosomy 9P
Micrognathia, Abnormality of the dentition, Cryptorchidism, Narrow mouth, Cleft palate, Abnormal ... ORPHA:261112
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphang... OMIM:137940
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Short philtrum, Widely spaced teeth, Conductive hearing impairment, Hepatomegal... OMIM:280000
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent trag... OMIM:603457
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi... ORPHA:77259
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemor... ORPHA:79282
Zellweger Syndrome
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Premature ... ORPHA:912
Tyshchenko Syndrome
Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Premat... OMIM:615102
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Posteriorly rotated ears, Pericardial effusion, Cryptorch... ORPHA:1272
Chromosome 5Q12 Deletion Syndrome
Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Incr... OMIM:615668
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... OMIM:612422
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Cleft palate, Low-set ears, Malar flattening ORPHA:85166
Cranioectodermal Dysplasia 2
Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Mic... OMIM:613610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cryptorchidism, Optic atrophy, Cleft palat... OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Yunis-Varon Syndrome
Polyhydramnios, Cardiomegaly, Micrognathia, High, narrow palate, Hydrops fetalis, Broad secondary... ORPHA:3472
Chédiak-Higashi Syndrome
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... ORPHA:167
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Ventricular septal defect, Crypto... OMIM:618950
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormal pinna morphology, Dental crowding, Cleft upper lip,... OMIM:219000
Boomerang Dysplasia
Cryptorchidism, Hydrops fetalis, Decreased response to growth hormone stimulation test, Polyhydra... ORPHA:1263
Noonan Syndrome 2
Abnormal coronary artery origin, Posteriorly rotated ears, Mitral stenosis, Ventricular septal de... OMIM:605275
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus... OMIM:164210
Tarp Syndrome
Meckel diverticulum, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Optic atrophy, ... OMIM:311900
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Dental crowding, Gingival overgrowth, Joint swelling, High palate, Atre... OMIM:618175
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormality of skin pigmentation, S... ORPHA:193
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Neutropenia,... ORPHA:699
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Fetal akinesia sequ... ORPHA:367
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... OMIM:618021
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse ORPHA:171881
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Atresia of the external auditor... OMIM:617666
Distal Triplication 15Q
Micrognathia, Sensorineural hearing impairment, Cupped ear, Patent ductus arteriosus, Hypoplastic... ORPHA:314588
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... ORPHA:124
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... ORPHA:2396
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... ORPHA:529962
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Hy... OMIM:253220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana... ORPHA:508498
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothy... OMIM:601005
3C Syndrome
Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve ... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, A... OMIM:618838
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Conductive hearing impairment, Hepatomegaly, Papilledema, Pe... ORPHA:580
Burn-Mckeown Syndrome
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upper... OMIM:608572
Achondrogenesis, Type Ii
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Long philtrum OMIM:200610
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conduct... ORPHA:398156
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilledema, Abnormal dental ... ORPHA:217085
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hemolytic anemia, Pericarditis, Edema, Portal hypertension, Pericardial effusion, O... OMIM:619487
Multiple Synostoses Syndrome 1
Stapes ankylosis, Thin upper lip vermilion, Asymmetry of the mouth, Progressive conductive hearin... OMIM:186500
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Raynaud phenomenon, Oral ulcer, Lymphadenopathy, Leukopenia, Ascites... ORPHA:93552
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Pleural effusion, Abn... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment, Mitral valve prolapse, Dentinogenesis imperfecta, Aortic aneurysm OMIM:166200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Micrognathia, High palate, Protein-losing enteropathy, Hepatomegaly, ... OMIM:235255
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilledema, Abnormal dental ... ORPHA:217093
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effu... OMIM:615355
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short ph... ORPHA:567
Hypoglossia With Situs Inversus
Micrognathia, Asplenia, Situs inversus totalis, Narrow mouth, High palate, Hypodontia, Polyspleni... OMIM:612776
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... OMIM:215140
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Retro... OMIM:618142
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Unilateral cryptorchidism,... OMIM:174300
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, Micrognathia,... OMIM:619472
Agnathia-Otocephaly Complex
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... OMIM:202650
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia ORPHA:141152
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Sensorine... OMIM:612938
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... ORPHA:26793
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... ORPHA:261311
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Cleft upper ... OMIM:612561
Costello Syndrome
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Generalized hyperpigmentation, Ven... ORPHA:3071
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... ORPHA:69735
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Exaggerated cupid's bow, Cu... OMIM:618619
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... ORPHA:95716
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Macrotia, Cardiomegaly OMIM:300886
German Syndrome
Lymphedema, Micrognathia, Hearing abnormality, Cryptorchidism, Orofacial cleft, Abnormal cardiac ... ORPHA:2077
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Decreased fetal movement, Tented upper lip vermilion, Dental crowding, Nonimmune hy... OMIM:620369
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... OMIM:618624
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Low-s... OMIM:618330
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal def... OMIM:618027
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Fair hair, Pulmonary edema, Inappropriate anti... ORPHA:79330
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... OMIM:240300
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... ORPHA:1600
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
8P23.1 Microdeletion Syndrome
Micrognathia, External ear malformation, Cryptorchidism, Patent ductus arteriosus, Pulmonary arte... ORPHA:251071
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f... OMIM:113650
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Decreased fetal movement, Micrognathia, Cryptorchidism,... OMIM:265000
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... OMIM:613759
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Sensorineural hearing impairment, Cupped ea... ORPHA:52055
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... ORPHA:46627
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... ORPHA:453499
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Micrognathia, Cryptorchidism, Protrud... ORPHA:2256
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Opt... ORPHA:1790
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... OMIM:614921
Congenital Myopathy 8
Congestive heart failure, High palate, Cardiomegaly OMIM:618654
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Carotid artery stenosis, Short neck, Low posterior hairline, Mitral ... OMIM:618000
Warsaw Breakage Syndrome
Ventricular septal defect, Hypermelanotic macule, Hypoplasia of the cochlea, Cupped ear, Optic di... OMIM:613398
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Hypertrichotic hyperpigmente... OMIM:602782
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Posteriorly rotated ears, High palate, Broad alveolar ridges, Low-set ... OMIM:314320
Achondrogenesis, Type Ia
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Ab... OMIM:200600
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upper lip, Cryptorchidism, P... ORPHA:96167
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Umbilical hernia, Aortic root aneurysm, Atrial septal defect ORPHA:404443
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Noonan Syndrome 10
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased nuchal translucenc... OMIM:616564
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... ORPHA:284169
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Lymphedema, Pancreatic cysts, Hydrops fetalis, Cleft palate, Abno... ORPHA:1318
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Sensorineural he... OMIM:220500
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplen... ORPHA:464329
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Polyhydramnios, Cardiomegaly, Subchorionic septal cyst, Posterior helix pi... ORPHA:116
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Toriello-Carey Syndrome
Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus art... ORPHA:3338
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micro... OMIM:309520
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Bilateral cryptorchidism, Sensorineural hear... OMIM:300472
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... ORPHA:199302
Carpenter Syndrome 1
Atrial septal defect, Abnormal pinna morphology, Ventricular septal defect, Micrognathia, Hypopla... OMIM:201000
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... ORPHA:555874
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent d... OMIM:613870
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Dental crowding,... OMIM:612582
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Senso... ORPHA:290
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... OMIM:235200
Noonan Syndrome 4
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Crypto... OMIM:610733
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Down... ORPHA:369891
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Micrognathia, Hypoplasi... OMIM:608149
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... ORPHA:329224
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615108
Ververi-Brady Syndrome
Thin upper lip vermilion, Cupped ear, Wide mouth, Single umbilical artery, High palate, Transposi... OMIM:617982
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Ventricular septal defect, Dental crowding, Micrognathia, C... OMIM:617201
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Abnormal pinna morphology, Ventricular septal defect, Cryptorchidism, R... OMIM:617452
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Hepatom... ORPHA:99827
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Micrognathia, High, narrow palate, High palate, Death in childhood, Hepatomeg... OMIM:214100
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... ORPHA:508488
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... OMIM:613604
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... ORPHA:94066
Lymphatic Malformation 1
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydr... OMIM:153100
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... OMIM:619980
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Wide anterior fontanel, Death in childhood, Pulmona... OMIM:619064
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he... ORPHA:49827
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Deep philtrum, Hypertension, Microtia, Low-set ears, Death in chi... OMIM:613320
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Precocious puberty, Cryptorchidism,... ORPHA:3306
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... OMIM:249270
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impa... OMIM:214300
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-... OMIM:609654
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia ORPHA:3104
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Dehydration, Central hypothyroidism, ... ORPHA:1667
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Downturned corners of mouth, Short philtrum, Low-set ears ORPHA:93267
Solar Urticaria
Edema, Periorbital edema, Vertigo, Abnormal tongue morphology, Angioedema, Abnormal lip morpholog... ORPHA:97230
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Atrial septal defect, Microretrognathia, Dilation of Virchow-Robin spaces,... OMIM:300998
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Fraser Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Anal stenosis, Dental crowding, Cleft upper ... ORPHA:2052
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m... ORPHA:261494
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Cherry red spot of th... OMIM:256540
8Q12 Microduplication Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Abnormal cranial nerve morphology, E... ORPHA:228399
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s... ORPHA:436003
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Agenesis of permanent teeth, ... OMIM:614091
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Natal tooth, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... ORPHA:166100
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Lymphadenopathy ORPHA:411703
De Barsy Syndrome
Delayed eruption of teeth, Decreased fetal movement, Ventricular septal defect, Cryptorchidism, P... ORPHA:2962
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... ORPHA:358
Congenital Disorder Of Glycosylation, Type Iig
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cryptorchidism... OMIM:611209
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615109
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy, Hypertension, Peripheral edema, Reduced hematocrit, Pleura... ORPHA:79126
Filippi Syndrome
Ventricular septal defect, Cryptorchidism, Optic atrophy, Thin vermilion border, Short philtrum, ... OMIM:272440
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... ORPHA:2363
Donnai-Barrow Syndrome
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan... ORPHA:2143
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Pigmentary retinopathy, Abnorm... OMIM:609015
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hea... ORPHA:500159
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Aortic root aneurysm, Mitral valve prolapse OMIM:130000
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Prot... OMIM:610253
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Pre... ORPHA:447980
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... ORPHA:404440
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, High palate, Ventricular septal defect, Broad secondary alveol... ORPHA:3369
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pulmon... ORPHA:276432
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Mediastinal lymphadenopathy, Diffuse alveolar he... ORPHA:199241
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myoc... ORPHA:158687
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly, Vertigo, Thick vermilion border, Hearing impairment ORPHA:3137
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral va... OMIM:121050
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Aneurysm Of Sinus Of Valsalva
Stroke, Dilatation of the sinus of Valsalva, Bacterial endocarditis ORPHA:1054
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Posteriorly rotated ears, Nonimmune hydrops fetalis, Polyhydramnios, Mi... OMIM:208150
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Abnormality of t... ORPHA:75389
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears,... OMIM:269860
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... ORPHA:353281
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atrophy, Cleft pa... OMIM:614261
Mosaic Trisomy 16
Meckel diverticulum, Abnormal ear morphology, Ventricular septal defect, Premature birth, Materna... ORPHA:1708
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defect, ... OMIM:616651
Sotos Syndrome
Mandibular prognathia, Atrial septal defect, Decreased fetal movement, Posteriorly rotated ears, ... OMIM:117550
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Polyhydramnios, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Low-... OMIM:616546
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal au... ORPHA:83601
Orofaciodigital Syndrome Xvii
Median cleft lip, High, narrow palate, Retrognathia, Low-set ears, Tetralogy of Fallot, Hearing i... OMIM:617926
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, De... OMIM:619542
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... OMIM:620210
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatos... ORPHA:93400
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, n... ORPHA:435638
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Premature graying of hair, High... ORPHA:769
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent foramen ovale, Patent ductus arteriosus, Vascular... OMIM:180849
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... ORPHA:3282
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:608779
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Intestinal... OMIM:263520
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, High palate, Atrial septal defect, Hepatomegaly, Death in infancy, Tricuspid regurg... OMIM:614866
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu... OMIM:619312
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ed... OMIM:615846
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... OMIM:612474
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... ORPHA:97290
Facioscapulohumeral Muscular Dystrophy 1
Sensorineural hearing impairment, Retinal telangiectasia, Facial palsy, Tongue atrophy OMIM:158900
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hearing im... OMIM:616277
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Retrognathia, Aplasia/Hypopl... ORPHA:505237
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Nonimmune hydrops fetalis, Cleft palate, Micrognathia OMIM:618265
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular sept... OMIM:619343
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... OMIM:208050
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis, Abnormality of the dentition ORPHA:88618
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Protruding ear, High palate, Long philtrum, Open mouth OMIM:618798
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus ORPHA:2538
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Micrognathia, Simple ear, St... OMIM:617667
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Patent ductus... OMIM:617061
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... OMIM:617159
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Polyhydramnios, Situs inversus totalis, Abnormal cranial nerve... ORPHA:990
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Diabetes mellitus, Ventricular septal defect, Micrognat... OMIM:270450
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... ORPHA:2847
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Micrognathia, Crypto... OMIM:616894
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Micrognathia, Goiter, Hypoplasia of the maxilla, Thyroiditi... OMIM:158350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... OMIM:608670
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... ORPHA:1507
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... ORPHA:457279
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Single umbilical ar... ORPHA:2772
Cat Eye Syndrome
Micrognathia, Atrial septal defect, Iris coloboma, Patent ductus arteriosus, Total anomalous pulm... OMIM:115470
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Natal tooth, Ventricular septal defect, Micrognathia, Low-set ears, Death in ch... OMIM:616901
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort... OMIM:600460
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Eso... OMIM:300514
Farber Disease
CNS foam cells, Hydrops fetalis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Joint swelling, Che... ORPHA:333
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Cryptorchidism,... ORPHA:261250
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Posteriorly rotated ears, Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the ... ORPHA:2759
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... OMIM:607823
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Atrial septal defect, Ventricular septal defect, External ear malformation,... ORPHA:254346
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Persistence of primary teet... ORPHA:97360
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect, Decreased fetal movement OMIM:616816
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... ORPHA:352665
Whistling Face Syndrome, Recessive Form
Micrognathia, Trismus, Whistling appearance, High palate, Narrow mouth, Malar flattening, Microgl... OMIM:277720
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Thin upper lip vermilion, Ventricular septa... ORPHA:457193
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Lymphedema... OMIM:300855
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Generalized hyperpigmentation, Lymphedema, Malabsorption, Spl... ORPHA:2930
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Leukemia, Ventricular septal defect, Smooth philtrum OMIM:602501
Alstrom Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:203800
Mucopolysaccharidosis Type 3
Cardiomegaly, Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairm... ORPHA:581
Spondylo-Ocular Syndrome
Ventricular septal defect, Abnormal antihelix morphology, Thin vermilion border, Low-set ears, Lo... ORPHA:85194
Blau Syndrome
Pericarditis, Hyperpigmentation of the skin, Facial palsy, Splenomegaly, Xerostomia, Large vessel... ORPHA:90340
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Thrombocytopenia, Cervical lymphadeno... ORPHA:50918
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, High palate, Thick... OMIM:620113
Aminopterin/Methotrexate Embryofetopathy
Low-set, posteriorly rotated ears, Mandibular prognathia, Ventricular septal defect, Micrognathia... ORPHA:1908
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Micrognathia, Cryptorchidism... ORPHA:52
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Additional crus of ... OMIM:620107
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... ORPHA:652
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Uplifted earlobe, Cleft palate, Furrowed t... OMIM:616449
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Malar flattening OMIM:269250
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... ORPHA:137667
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent sinusitis, Calcifi... ORPHA:85202
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Sensorineural hearing impairment, Patent ductus... OMIM:617751
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Neurofibroma
Melanocytic nevus, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestina... ORPHA:252183
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Micrognathia, Abnormality of the endocrine system, Cryptorchidism, Hea... ORPHA:166035
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Atrial septal defect, Decreased fetal movement, Posteriorly rotated ea... OMIM:157800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Colitis, Cardiomegaly ORPHA:88643
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... OMIM:274300
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... OMIM:241310
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... ORPHA:1458
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Generalized hyperpigmentation, Ventricular septal defect, Abnormal den... ORPHA:1071
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Protruding tongue, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect,... ORPHA:96147
Phocomelia, Schinzel Type
Micrognathia, Cryptorchidism, High, narrow palate, Hydrops fetalis, Tracheoesophageal fistula, Pr... ORPHA:2879
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Low-s... OMIM:619895
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia ORPHA:3469
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Oligoh... OMIM:208085
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... OMIM:300963
Opitz Gbbb Syndrome
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Enlarged ovaries, Cryptorc... ORPHA:2745
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosis, Malar flat... OMIM:218350
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Tarp Syndrome
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Pi... ORPHA:2886
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th... ORPHA:96334
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Ascites ORPHA:584
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge, Low-set ears OMIM:617127
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Pendred Syndrome
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... ORPHA:705
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Arterial Tortuosity Syndrome
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... ORPHA:3342
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... ORPHA:513456
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... ORPHA:2331
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... ORPHA:730
Developmental And Epileptic Encephalopathy 80
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... OMIM:618580
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... OMIM:610168
Koolen-De Vries Syndrome
Fair hair, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Anteverted ears, Cr... OMIM:610443
Alzahrani-Kuwahara Syndrome
Smooth philtrum, Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Coronary... OMIM:619268
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Micrognathia, ... ORPHA:1655
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis, Cysti... OMIM:313850
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Juvenile Sialidosis Type 2
Hepatomegaly, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatosplenomegaly, Abnormal... ORPHA:93399
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... OMIM:181000
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the... ORPHA:2969
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H... OMIM:613717
Igg4-Related Submandibular Gland Disease
Eosinophilia, Facial edema, Periorbital edema, Abnormality of the thyroid gland, Enlarged lacrima... ORPHA:449432
Mosaic Trisomy 1
Microretrognathia, Ventricular septal defect, Abnormal pinna morphology, Polyhydramnios, Increase... ORPHA:1692
Ascher Syndrome
Upper eyelid edema, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter ORPHA:1253
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymph... ORPHA:653
X Small Rings
Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root... ORPHA:96201
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Posteriorly rotated ears, Macrodontia, Protrudi... OMIM:212066
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Stomatitis, Dextrocardia, Megaloblastic ane... OMIM:277380
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Cryptorchidism, Thin vermil... ORPHA:96097
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... OMIM:612530
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Le... OMIM:243150
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Low-set ea... ORPHA:261190
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Low-set ... OMIM:613443
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... ORPHA:353277
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... OMIM:311200
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Cleft upper lip, Hamartoma of to... OMIM:277170
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft upper lip, R... OMIM:300000
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... ORPHA:1307
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated e... OMIM:617450
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... ORPHA:464738
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Congenital pulmona... OMIM:611812
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue ORPHA:2743
Joubert Syndrome 18
Lobulated tongue, Retrognathia, Ventricular septal defect, Cleft palate OMIM:614815
Down Syndrome
Thickened nuchal skin fold, Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality o... ORPHA:870
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Optic... ORPHA:494344
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Th... OMIM:619103
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Cleft palate, Open mouth OMIM:147800
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Prominent crus of helix, Macr... OMIM:617804
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Death in infancy, Splenomeg... OMIM:614576
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Cryptor... OMIM:244300
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmenta... OMIM:169400
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Protr... OMIM:619123
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... OMIM:602535
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Cleft palate, Abnormal cranial nerve morphology, Ectopic anus, Anal at... ORPHA:2345
Bohring-Opitz Syndrome
Bilateral cleft palate, Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple... OMIM:605039
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... ORPHA:230851
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... ORPHA:465508
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial s... OMIM:300373
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Yunis-Varon Syndrome
Polyhydramnios, Micrognathia, Hydrops fetalis, Protruding ear, Short philtrum, High palate, Small... OMIM:216340
Carey-Fineman-Ziter Syndrome 1
Decreased fetal movement, Facial palsy, Micrognathia, Cryptorchidism, Sensorineural hearing impai... OMIM:254940
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Premature birth, Puberty and gonadal disorders, Splenomegaly, ... ORPHA:525731
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly, Ventricular septal defect ORPHA:1296
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Ventricular septal defect, Increased overbite OMIM:618504
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal... OMIM:617360
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Es... OMIM:617925
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Optic atrophy, C... OMIM:614424
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Death in infancy, Posteriorly rotated ears, Cardiomegaly, Antenatal intracerebral h... OMIM:608836
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Low-set ... OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... OMIM:617635
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Optic disc pallor, Ventricular septal defect, Cryptorchidism, Neo... OMIM:613730
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Malabsorption, ... ORPHA:452
Cerebrocostomandibular Syndrome
Atrial septal defect, Anal stenosis, Ventricular septal defect, Posteriorly rotated ears, Polyhyd... OMIM:117650
Hartnup Disorder
Glossitis OMIM:234500
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Villous atrophy, Malabsorp... OMIM:557000
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:300534
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Micrognathia, Precocious puberty, Cryptorchidism, High, narrow palate, Abnormality ... ORPHA:96092
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Au-Kline Syndrome
Thickened nuchal skin fold, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairmen... OMIM:616580
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... OMIM:612289
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Patent foramen ovale, Narro... OMIM:245600
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Donnai-Barrow Syndrome
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan... OMIM:222448
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Macrotia, ... ORPHA:2463
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hypopig... ORPHA:797
C Syndrome
Hepatomegaly, Ventricular septal defect, Posteriorly rotated ears, Accessory oral frenulum, Micro... OMIM:211750
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Dental crowding, Su... OMIM:257920
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, High ... OMIM:162300
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... ORPHA:2754
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Lymphadenopathy... ORPHA:79078
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Short philtrum, High palate... ORPHA:96121
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Branchial fistu... ORPHA:261337
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:609053
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Myasthenic Syndrome, Congenital, 10
Decreased fetal movement, Tongue atrophy OMIM:254300
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Lef... OMIM:617713
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defec... OMIM:614294
Brachydactyly, Type B1
Wide anterior fontanel, Delayed eruption of permanent teeth, Ventricular septal defect OMIM:113000
Frontorhiny
Low-set, posteriorly rotated ears, Diabetes insipidus, Hypoplasia of the maxilla, Hypoplastic fro... ORPHA:391474
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal def... OMIM:610759
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cry... OMIM:616975
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Hearing impairment, Abnormality of canine, P... ORPHA:364577
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Fetal akinesia sequence, Cryptorchidism, De... OMIM:618143
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipp... OMIM:618454
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cl... OMIM:616300
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Low-set ... OMIM:601357
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive... ORPHA:2751
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Cleft upper lip, Adrenal hypop... OMIM:264480
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... OMIM:615582
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Micrognathia... OMIM:613457
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Distal Deletion 12Q
Micrognathia, High, narrow palate, Patent foramen ovale, Wide anterior fontanel, Patent ductus ar... ORPHA:96149
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Seckel Syndrome 9
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Micrognathia, Protruding ear... OMIM:616777
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, High palate, Ventricular septal defect, Dextrotransposition of the great ... OMIM:619995
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter, Thrombocytopenia ORPHA:3327
Trisomy 8Q
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial... ORPHA:1752
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Holoprosencephaly
Abnormality of the spleen, Deep philtrum, Iris coloboma, Diabetes insipidus, Bilateral cleft lip,... ORPHA:2162
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Optic atrophy ORPHA:216873
Bangstad Syndrome
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, G... OMIM:210740
Prune Belly Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Inte... ORPHA:2970
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Abnormal pinna morphology, Micrognathia, Optic atrophy, Macrotia, Prof... ORPHA:3078
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... ORPHA:57777
Intellectual Developmental Disorder, Autosomal Dominant 58
Few cafe-au-lait spots, Posteriorly rotated ears, Dental crowding, Protruding tongue, Submucous c... OMIM:618106
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Hypermelanotic macule ORPHA:2762
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Fanconi Anemia
Micrognathia, Abnormality of skin pigmentation, Leukopenia, High palate, Atrial septal defect, Ab... ORPHA:84
Meckel Syndrome, Type 1
Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Iris coloboma, Accessory spleen, Cl... OMIM:249000
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Micrognathia, Ab... ORPHA:251028
Woods Syndrome
Optic atrophy, Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Posteriorly rotated ea... OMIM:619229
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... OMIM:212140
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin vermilion borde... ORPHA:217346
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, M... OMIM:618268
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal transluce... OMIM:618870
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Optic disc pallor, Ventricular septal defect, Abnormal pinna morphology... OMIM:244450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
X-Linked Agammaglobulinemia
Sinusitis, Malabsorption, Sensorineural hearing impairment, Hypopigmented skin patches, Anemia, G... ORPHA:47
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Optic atrophy, Chylopericardium, Lymphadenopathy, Abnorm... ORPHA:538
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Thrombocytopenia, Goiter OMIM:274240
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Micrognathia, Patent ductus arteriosus, D... OMIM:606232
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomegaly, Sensorineural hearing impairment, Stroke-like episode, Cardiomyopa... OMIM:105210
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Patent ductus arteriosus, Hypoplastic left heart, Narrow mouth, Microglossia ORPHA:1972
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... ORPHA:562
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Heart block, Cryptorchidism, Sensorineural hearing impa... OMIM:617063
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hy... ORPHA:141127
Focal Dermal Hypoplasia
Ventricular septal defect, Abnormal dental enamel morphology, Abnormal dental morphology, Abnorma... ORPHA:2092
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... ORPHA:99880
Benign Schwannoma
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of the twelfth cran... ORPHA:252164
Moebius Syndrome
Death in infancy, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial palsy, ... ORPHA:570
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr... ORPHA:740
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Sensorineural hea... ORPHA:3241
Galloway-Mowat Syndrome 7
Ventricular septal defect, Edema, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, ... OMIM:618348
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Retrognathia, Cleft palate, Pierre-Robin sequence OMIM:620269
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased fetal movement, Micrognathia, Decreased nerve conduction velocity, Cleft palate, Glosso... OMIM:618356
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge over... ORPHA:444072
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Bilate... ORPHA:1051
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... ORPHA:288
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Transposition of the... OMIM:314390
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... ORPHA:143
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Cardiomegaly, Micrognathia, Splenomegaly, Co... OMIM:252500
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... ORPHA:96129
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... ORPHA:805
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Blepharochalasis And Double Lip
Blepharochalasis, Duplication of the upper lip, Goiter OMIM:109900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Atrial septal defect, Posteriorly rotated ears, Ventricular sep... OMIM:609942
Orofaciodigital Syndrome Iv
Accessory oral frenulum, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated tongue, High ... OMIM:258860
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, Mac... OMIM:618874
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Lymphedema, Micrognathia, High, narrow palate, High palate, Atr... OMIM:163950
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Raine Syndrome
Mandibular prognathia, Death in infancy, Mixed hearing impairment, Natal tooth, Abnormal pinna mo... OMIM:259775
Stuve-Wiedemann Syndrome 1
Death in infancy, Pursed lips, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy... OMIM:601559
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in c... OMIM:268800
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atrioventricular ... ORPHA:818
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Maternal diabetes, Micrognathia, Carious teeth, Glossoptosis, Hearing impairment ORPHA:93346
Pallister-Hall-Like Syndrome
Death in infancy, Median cleft lip, Micrognathia, Microglossia, Cleft palate, Anterior hypopituit... OMIM:241800
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ... ORPHA:2167
Degcags Syndrome
Polyhydramnios, Micrognathia, Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemi... OMIM:619488
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... ORPHA:251038
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment OMIM:252920
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Velopharyngeal ... OMIM:613680
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Exaggerated cupi... OMIM:615879
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Nephrotic Syndrome, Type 11
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... OMIM:616730
Darier-White Disease
Enlargement of parotid gland, Hypermelanotic macule OMIM:124200
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Mandibular prognathia, Delayed eruption of teeth, Posteriorly... OMIM:135500
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Hearing impairment ORPHA:391428
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
Chops Syndrome
Ventricular septal defect, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, High, narrow p... OMIM:616368
Mosaic Trisomy 20
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft lip, Dysplastic tricuspid valve, D... ORPHA:1724
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho... ORPHA:2710
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal pinna morphology, Micrognathia, Hypoplastic frontal sin... ORPHA:90652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Micrognathia, Protruding tongue, Malabsorption, T lymphocytopenia, Macroglossia, Low-s... OMIM:242860
Agel Amyloidosis
Tongue atrophy, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal splee... ORPHA:85448
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... OMIM:230000
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Pe... ORPHA:449395
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... OMIM:300967
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Po... ORPHA:459070
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Branchiooculofacial Syndrome
Micrognathia, Premature graying of hair, Conductive hearing impairment, Ectopic thymus tissue, Hy... OMIM:113620
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Optic atrophy, Retrognathia, Hypoplasia of teeth, Macrotia OMIM:234050
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Cardiomegaly, Micrognathia, Cleft lip, Optic atrophy, Cleft pa... ORPHA:97297
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Micrognathia, Dilated... OMIM:607598
Fryns Syndrome
Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Atrial septal defect, Micr... OMIM:229850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Micrognathia, Macrotia, Thick vermilion border, Low-set ears, Cafe-au-... OMIM:250410
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pa... OMIM:614961
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia OMIM:266500
Otospondylomegaepiphyseal Dysplasia
Posteriorly rotated ears, Polyhydramnios, Micrognathia, Sensorineural hearing impairment, Cleft p... ORPHA:1427
Pseudo-Torch Syndrome 3
Death in infancy, Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis... OMIM:618886
Thakker-Donnai Syndrome
Ventricular septal defect, Posteriorly rotated ears, Tetralogy of Fallot, Tracheoesophageal fistu... ORPHA:1780
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology ORPHA:531151
Cowden Syndrome
Follicular thyroid carcinoma, Hearing impairment, Enlarged polycystic ovaries, Abnormality of the... ORPHA:201
Fucosidosis
Hepatomegaly, Abnormality of the dentition, Cardiomegaly, Hypothyroidism, Hearing impairment ORPHA:349
Trisomy 18
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Microretrognathia, Ventri... ORPHA:3380
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Protruding tongue, Thick vermilion border, Pleural effusion, Macrotia ORPHA:1446
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Deep philtrum, Optic disc coloboma, Clef... ORPHA:251014
Costello Syndrome
Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Micrognathia, Premature birt... OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Thickened helices, Con... OMIM:607872
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Abnormal dental enamel morphol... ORPHA:2750
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Codas Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Crypt... OMIM:600373
Seckel Syndrome 2
Few cafe-au-lait spots, Micrognathia, Heart murmur, Microdontia, Microglossia OMIM:606744
Cornelia De Lange Syndrome 1
Micrognathia, High, narrow palate, Downturned corners of mouth, Widely spaced teeth, High palate,... OMIM:122470
Weill-Marchesani Syndrome 2
Iridodonesis, Ventricular septal defect, Hypoplasia of the maxilla, Congestive heart failure, Pat... OMIM:608328
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla... OMIM:609460
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st... OMIM:301030
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Posteriorly rotated ears, Hamartoma of... OMIM:615948
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Crypto... OMIM:607721
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect ORPHA:1425
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:284979
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Low-set... ORPHA:2752
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect, Bilateral sensorineural hearing impairment OMIM:619083
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... ORPHA:365
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of t... ORPHA:95159
Jacobsen Syndrome
Iris coloboma, Abnormality of the anus, Low-set, posteriorly rotated ears, Death in infancy, Prem... ORPHA:2308
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna... OMIM:309500
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Facial palsy, Edema, Hearing impairment, Atrial fibrillation,... ORPHA:254892
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia of the ma... ORPHA:79345
Pmm2-Cdg
Mandibular prognathia, Lymphedema, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:79318
Hardikar Syndrome
Premature rupture of membranes, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Cleft s... OMIM:301068
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Hypertension, Bl... OMIM:614653
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septa... OMIM:613458
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Atrial septal defect, ... ORPHA:84064
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, H... ORPHA:2457
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Secundum atrial septal defect, ... OMIM:616268
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenom... ORPHA:646
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Cryptorc... OMIM:102500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Mowat-Wilson Syndrome
Uplifted earlobe, Widely spaced teeth, Atrial septal defect, Iris coloboma, Pulmonary artery slin... OMIM:235730
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... ORPHA:991
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Decreased response ... ORPHA:488632
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Micrognathia, Swollen lip, C... OMIM:256520
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofacial cleft, Thin vermil... ORPHA:1519
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Iris coloboma, ... ORPHA:955
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Furrowed tongue ORPHA:2928
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Premature birth, Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis ORPHA:440354
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Low-se... OMIM:613404
Restrictive Dermopathy
Premature delivery because of cervical insufficiency or membrane fragility, Polyhydramnios, Micro... ORPHA:1662
Kabuki Syndrome 1
Premature thelarche, Micrognathia, Protruding ear, High palate, Atrial septal defect, Hemolytic a... OMIM:147920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macroglossia, Glossitis ORPHA:2221
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Restrictive Dermopathy 1
Natal tooth, Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Po... OMIM:275210
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... OMIM:105830
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... ORPHA:98795
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Vertigo,... ORPHA:79280
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of... ORPHA:449563
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Antevert... OMIM:613884
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... ORPHA:3201
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Prematur... OMIM:615873
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Lelis Syndrome
Mandibular prognathia, Carious teeth, Perioral hyperpigmentation, Furrowed tongue, Hypodontia, Vi... ORPHA:140936
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... ORPHA:3474
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Hyperpigmentation of the skin, Nonimmune hydrop... ORPHA:79277
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart ORPHA:2476
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations OMIM:613435
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Mitral regurgita... ORPHA:313892
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hyperpigmentation of the skin, Microcytic anemia, Cardiomegaly, Thrombocytopenia, S... OMIM:256040
Tetrasomy 9P
Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... ORPHA:3310
Keutel Syndrome
Calcification of the auricular cartilage, Ventricular septal defect, Miscarriage, Sinusitis, Cost... OMIM:245150
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Sudden cardiac death, Cardiomegaly, Re... OMIM:201475
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, ... OMIM:268310
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... OMIM:300952
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, High palate, Retrognathia OMIM:617164
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophag... ORPHA:958
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Melkersson-Rosenthal Syndrome
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia... ORPHA:2483
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Mitral valve prolapse, Taurodonti... OMIM:616202
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Abnormality of the dentition... OMIM:617140
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b... ORPHA:2907
Smith-Lemli-Opitz Syndrome
Dental crowding, Micrognathia, Atrial septal defect, Bifid uvula, Microretrognathia, Hepatomegaly... OMIM:270400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tracheoe... ORPHA:77298
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu... ORPHA:51636
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Teebi-Shaltout Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Aortic val... OMIM:272950
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... ORPHA:411511
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Polyhydramnios, Micrognathia, Protruding tongue, Cupped ear, Abnormal h... OMIM:617062
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Marshall-Smith Syndrome
Protruding tongue, Optic atrophy, Gingival overgrowth, Conductive hearing impairment, Open mouth,... ORPHA:561
Filippi Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin vermilion bo... ORPHA:3255
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Icf Syndrome
Abnormality of neutrophils, Micrognathia, Protruding tongue, Malabsorption, Macroglossia, Low-set... ORPHA:2268
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Bacterial en... ORPHA:97214
Meckel Syndrome
Low-set, posteriorly rotated ears, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of t... ORPHA:564
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment OMIM:251800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Recurrent otitis media, Chronic ... OMIM:616037
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P... ORPHA:1465
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Hepatomegaly, Neutrophilia, Palpebral edema, Severe periodontitis, Microcy... ORPHA:99843
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid... ORPHA:33364
Otosclerosis 10
Otosclerosis OMIM:615589
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Atrial... ORPHA:280633
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Accessory oral f... ORPHA:434179
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft... ORPHA:1335
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Low-set ears, Long philtrum OMIM:617895
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Melioidosis
Shock, Abnormality of the spleen, Abnormal parotid gland morphology, Splenic abscess, Parotitis ORPHA:31202
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Polyhydramnios, High, narrow palate, Atrial septal de... ORPHA:373
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Maternal di... ORPHA:1199
9q subtelomeric deletion syndrome
Protruding tongue, Abnormal heart morphology DECIPHER:52
Bangstad Syndrome
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... ORPHA:1227
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... ORPHA:881
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:536467
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Sinusitis, Ventricular septal defect, Micrognathia, Axillary freckling, Abnor... ORPHA:363700
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... ORPHA:1359
Jacobsen Syndrome
U-Shaped upper lip vermilion, Ventricular septal defect, Micrognathia, Cryptorchidism, Pyloric st... OMIM:147791
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Breech prese... OMIM:618846
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Uplifted earlobe, Po... OMIM:619841
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L... OMIM:619306
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma ORPHA:122
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Myopathy With Extrapyramidal Signs
Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Leukocytosis, ... OMIM:615673
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the max... OMIM:261540
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Wide mouth, Thick vermil... ORPHA:1517
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun... OMIM:619991
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of... ORPHA:306542
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops... OMIM:602522
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Saethre-Chotzen Syndrome
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart ... OMIM:101400
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Facial palsy, Sensorineural hearing impairment, Tongue fasciculations, Death in c... OMIM:211530
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequence, Cleft palate... ORPHA:1358
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, High, narrow palate, Sensorineural hearing impairment, Hematochezia, S... OMIM:619575
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Melena, Corneal neovascul... OMIM:158310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Anemia, Hematochezia, Protein-losing enteropa... OMIM:175500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia... OMIM:612528
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Dilatation of the cereb... ORPHA:284984
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Micrognathia, Cleft palate, Microtia, Thick anterior alveolar ridges, ... ORPHA:2839
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Abnormal morphology of the great vessels, Cleft palate, Downturned corners of ... ORPHA:488642
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, A... ORPHA:89842
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... ORPHA:268261
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Ad... OMIM:130650
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, A... OMIM:150250
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Meckel diverticulum, Edema of the dorsum of feet, Ventricular septal defect, Eo... OMIM:274000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Ventricular septal defect, Orofacial cleft, Hepatomegaly OMIM:615630
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... OMIM:619909
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... ORPHA:98794
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Premature birth, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic a... OMIM:230600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis OMIM:617994
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Atrial septal defect, Posterior helix pit, Hepatomegaly, E... OMIM:312870
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Microtia, Duodenal... OMIM:617798
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Premature birth, Protruding tongue, Gingival overgrowth, Wide mouth, Low-set ears OMIM:618797
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Neutr... ORPHA:79284
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft... ORPHA:2473
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Marden-Walker Syndrome
Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Micrognathia, Situs inversus t... ORPHA:2461
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subv... OMIM:613001
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Sensorineural hearing impairment, Pedal edema, ... OMIM:617107
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... OMIM:603903
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Sens... ORPHA:828
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy OMIM:619259
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia... ORPHA:464306
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Abnormal pinna morphology, Polyhyd... OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Ventricular septal defect, Micrognathia OMIM:620073
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Glossoptosis, Protruding ear ORPHA:2031
Wolf-Hirschhorn Syndrome
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septal defect,... OMIM:194190
Pallister-Killian Syndrome
Edema of the dorsum of feet, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hyperpigme... OMIM:601803
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Protruding ear, High palate, Atrial septal defect,... OMIM:614976
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Low-set ears OMIM:618325
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Premature birth, Congenital hyp... OMIM:105650
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Stomatitis, Ga... ORPHA:97280
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Palpitations, Goiter OMIM:188580
Angelman Syndrome
Mandibular prognathia, Optic disc pallor, Precocious puberty in females, Protruding tongue, Optic... ORPHA:72
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Calcif... ORPHA:51
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Protruding ear, Abnormality of skin pigmentation, Sho... OMIM:619475
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino... OMIM:145001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Polyhydramnios, Cryptorchidis... ORPHA:464311
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Vascular calcification, Premat... ORPHA:90324
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... ORPHA:466791
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hyperpigmentation of the skin, Hypergonadotropic hypogon... OMIM:227645
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Micrognathia, Thrombocytopenia, Splen... OMIM:619525
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level OMIM:612089
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Facial palsy, Sensorineural hear... OMIM:607323
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... OMIM:243800
Spinocerebellar Ataxia Type 36
Vertigo, Tongue fasciculations, Tongue atrophy, Hearing impairment ORPHA:276198
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Weill-Marchesani Syndrome 1
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition... OMIM:277600
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma OMIM:617343
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Premature graying of hair, Early onset of sexual maturati... OMIM:194050
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Furrowed tongue OMIM:301845
Hartnup Disease
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis ORPHA:2116
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Dental crowding, P... OMIM:301044
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Premature birth, Incre... OMIM:609152
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Premature birth, Sp... OMIM:619418
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Ventricular septal defect, Micrognathia, Cryptorchidism, Muscular ventricular s... OMIM:210710
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Kinsship Syndrome
Mandibular prognathia, Death in infancy, Thin upper lip vermilion, Micrognathia, Thick lower lip ... OMIM:619297
Autosomal Dominant Robinow Syndrome
Median cleft lip and palate, Posteriorly rotated ears, Micrognathia, Open bite, Cryptorchidism, S... ORPHA:3107
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Singleton-Merten Syndrome 1
Smooth philtrum, Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth ge... OMIM:182250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Posteriorly rotated ears, Cleft palate, Low-set ears, Hearing impairment OMIM:178110
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Cryptorchidism, Narrow palate, Long philtrum, High pal... OMIM:616078
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Low APGAR score ORPHA:79243
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Prominent scalp veins, Anterior pituitary hypoplasia, Micrognathia, Abnorm... OMIM:151050
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Micrognathia, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Cleft palate OMIM:611134
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Fr... OMIM:618373
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue OMIM:620352
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Multinodular goiter, Multiple enchondromatosis, Adenocarc... OMIM:620189
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Micrognathia, Cryptorchidism, Esophageal atresia, Hydrops fetalis, Ectopic anus,... ORPHA:93271
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Aortic regurgitation, Tricuspid regurgitation... OMIM:143095
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Gastrointestin... ORPHA:97283
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... ORPHA:989
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, Supernumerary tooth, Hig... ORPHA:2108
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Macroglossia, Cardio... ORPHA:258
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Brachial plexus neuropathy, Reduced left v... ORPHA:268
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar... OMIM:100300
Alagille Syndrome 1
Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Pigmentary retinopathy, Str... OMIM:118450
Coffin-Siris Syndrome 1
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Cryptorchidism, Pa... OMIM:135900
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97278
Neuroocular Syndrome
Brushfield spots, Unilateral deafness, Short uvula, Cupped ear, Blue irides, Retrognathia, Submuc... OMIM:619539
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Cardiomyopathy, Abnormal myocardium... ORPHA:228308
Sotos Syndrome
No permanent dentition, Pedal edema, Atrial septal defect, Conductive hearing impairment, Chronic... ORPHA:821
Cousin Syndrome
Posteriorly rotated ears, Micrognathia, Microglossia, Alveolar ridge overgrowth, Cleft palate, Lo... OMIM:260660
Gracile Bone Dysplasia
Death in infancy, Asplenia, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Sensorineural hearing impa... ORPHA:500095
Microsporidiosis
Sinusitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Myocarditis, Lymphade... ORPHA:2552
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Patent foramen ovale, Gingival overgrowth, Protruding tongue OMIM:619179
Neurocardiofaciodigital Syndrome
Optic disc pallor, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin verm... OMIM:619869
Muir-Torre Syndrome
Colon cancer, Adenoma sebaceum, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Cardiomegaly, Acanthocytosis,... ORPHA:14
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Trismus, Smooth tongue, Abnormal autonomic nervous system physiolog... ORPHA:3206
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97261
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi... ORPHA:54028
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal defect,... OMIM:268300
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... ORPHA:101085
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma OMIM:608266
Ulnar-Mammary Syndrome
Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Ectopic anus, Breast aplasia, Hypodo... ORPHA:3138
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Asplenia, Cleft ... ORPHA:261552
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... ORPHA:287
Hand-Foot-Genital Syndrome
Miscarriage, Microtia, Ventricular septal defect ORPHA:2438
Microphthalmia, Syndromic 3
Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, Optic nerve hypopl... OMIM:206900
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve pro... ORPHA:666
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pig... ORPHA:79396
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti... ORPHA:99949
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Micrognathia, Cleft palate, Hearing impairment ORPHA:94068
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... ORPHA:35858
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Plague
Hepatomegaly, Chapped lip, Tachycardia, Mydriasis, Edema, Hematemesis, Splenomegaly, Lymphadeniti... ORPHA:707
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, I... ORPHA:436252
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Decreased distal sensory nerve action potential, Sensorineural hearing impairment... ORPHA:99956
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Ventricular septal defect, Polyhydramnios, Abnormal heart morphology ORPHA:254534
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Pulmonic stenosis, Protruding tongue OMIM:614325
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardial effusion, Vascular ... OMIM:219730
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Sensorineural hearing impairment, Optic atro... ORPHA:506
Generalized Pustular Psoriasis
Congestive heart failure, Leukocytosis, Cheilitis, Pedal edema, Lymphopenia, Geographic tongue ORPHA:247353
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level ORPHA:99879
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defec... OMIM:620330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine... ORPHA:438213
Joubert Syndrome 1
Optic disc pallor, Protruding tongue, Optic disc coloboma, Macroglossia, Low-set ears, Triangular... OMIM:213300
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Female hypogonadism, Uplifted earlobe, Micrognathia, Adrenal hypoplasia... OMIM:607932
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Abnormal pa... ORPHA:141099
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T... ORPHA:466768
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Neurofibromatosis, Type I
Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots, Hypertension, Pheochromocyto... OMIM:162200
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Ventricular septal def... OMIM:107480
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Myopathy, Myofibrillar, 7
Tongue atrophy, Facial palsy OMIM:617114
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Hearing impairment, Optic neuropathy, Thick lower lip vermilion, Optic... OMIM:619727
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Geographic tongue, Furrowed tongue OMIM:614204
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Cafe-au-lait spot, Aplastic anemia OMIM:610832
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Sensorineural hearing impairment, Oral leukoplakia, Furrowed tongue OMIM:148210
Omodysplasia 1
Ventricular septal defect, Micrognathia, Cryptorchidism, Pulmonary artery stenosis, Long philtrum... OMIM:258315
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Ventricular septal defect, Carious teeth, Cryptorchidism, Patent ductus... OMIM:619522
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia ORPHA:90045
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid ORPHA:95712
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios OMIM:615503
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Hearing impairment OMIM:619580
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Genitopatellar Syndrome
Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Polyhydramnios, Micrognathia... OMIM:606170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cleft palate, Mitral regurgitatio... OMIM:271640
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Micrognathia, Protruding tongue, Facial diplegia, Hearing impairment ORPHA:98889
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Limb Body Wall Complex
Ventricular septal defect, Cleft lip, Amniotic constriction ring, Cleft palate, Abnormal heart mo... ORPHA:2369
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Penile Agenesis
Ventricular septal defect, Posteriorly rotated ears, Maternal diabetes, Rectal fistula, Cryptorch... ORPHA:49
Developmental And Epileptic Encephalopathy 100
Decreased fetal movement, Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival o... OMIM:619777
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Optic atrophy, Shor... OMIM:614947
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Bifi... OMIM:613091
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti... OMIM:616682
Renal Agenesis
Hypertension, Ventricular septal defect, Anal atresia, Oligohydramnios ORPHA:411709
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth... ORPHA:79408
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv... ORPHA:261537
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu... ORPHA:2152
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anal stenosis, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Thyroid carcinoma, ... ORPHA:276399
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Otopalatodigital Syndrome, Type Ii
Spina bifida, Short neck, Atrial septal defect, Umbilical hernia, Dilatation of the sinus of Vals... OMIM:304120
Choreoacanthocytosis
Hepatomegaly, Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level... ORPHA:2388
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ventricular septal defect, Cleft palate ORPHA:1934
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Sensorineural hearing impair... ORPHA:388
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Ventricular septal defect OMIM:259770
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500

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 Ece1

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 Ece1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Spontaneous recombinase activity of Cre-ERT2 in vivo. Transgenic research (April 2017) Ece1tm1c(KOMP)Wtsi Ece1tm1a(KOMP)Wtsi Ece1tm1d(KOMP)Wtsi 28409408

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
Ece1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ece1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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