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Gene: Shroom3 MGI:1351655

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Gene Summary

Name:
shroom family member 3
Synonyms:
Shrm,  Shrm3,  D5Ertd287e

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Shroom3em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
exencephaly Shroom3em1(IMPC)Bay HOM E18.5 0.00
facial cleft Shroom3em1(IMPC)Bay HOM E18.5 0.00
abnormal body wall morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
protruding tongue Shroom3em1(IMPC)Bay HOM E18.5 0.00
spina bifida Shroom3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Shroom3em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Shroom3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Shroom3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper... ORPHA:1104
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Non-midline cleft of the upper lip, Gastro... ORPHA:2476
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l... OMIM:601357
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Genitopalatocardiac Syndrome
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... OMIM:231060
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri... OMIM:115197
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Cleft upper lip, Bilateral microphthalmos, Ethmoidal encephal... OMIM:607597
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Acalvaria
Spina bifida, Omphalocele, Hydrocephalus, Holoprosencephaly, Cleft palate ORPHA:945
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly OMIM:611638
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Omphalocele, Anal a... ORPHA:63862
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Double inlet left ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:619869
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Solitary median maxillary central inc... ORPHA:952
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Inguinal hernia, Long philtrum OMIM:211960
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Supernumerary Nostril
Tessier cleft ORPHA:141096
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Median cleft upper lip, Cleft palate, Aplasia/Hypopl... ORPHA:1794
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... OMIM:179613
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly OMIM:618804
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal... ORPHA:3426
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Carious teeth, Tooth agenesis, Inguinal hernia, Abno... ORPHA:1786
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Protruding tongue, Alveolar ridge overgrowth, Hydrocephalus, Thin ... OMIM:612938
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Inguinal hernia, Thick vermilion... OMIM:618106
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Caudal Duplication
Intestinal duplication, Myelomeningocele, Spinal cord lesion, Spina bifida, Omphalocele ORPHA:1756
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Cleft palate ORPHA:957
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Gastroschisis, Omphalocele, Bladder exstrophy, Cle... OMIM:217100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def... OMIM:620070
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft upper lip, Narrow mouth, Cleft palate OMIM:239800
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Congenital Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue, Inguinal hernia, Hypoplasia of the fove... ORPHA:93400
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Icf Syndrome
Macroglossia, Communicating hydrocephalus, Protruding tongue, Umbilical hernia ORPHA:2268
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Omphalocele, Anal atresi... ORPHA:63260
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Omphalocele, Microphthalmia, Meningocele, Anencephaly, Cle... OMIM:603194
Gombo Syndrome
Microphthalmia OMIM:233270
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... OMIM:158170
Isolated Klippel-Feil Syndrome
Anal atresia, Spina bifida, Ectopic anus, Cleft palate ORPHA:2345
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Meningocele, Duodenal stenosis ORPHA:1759
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Juvenile Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue, Inguinal hernia ORPHA:93399
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Microphthalmia OMIM:616570
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Wide mouth, Hydrocephalus ORPHA:1647
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Microphthalmia, Anencephaly, Cleft palate OMIM:611561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Stroke, Paroxysmal atrial tachycardia, Atria... ORPHA:49827
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:117550
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, Microphthalmia, High palate, Cleft palate ORPHA:1135
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Hartsfield Syndrome
Non-midline cleft of the upper lip, Encephalocele, Microphthalmia, Lobar holoprosencephaly, Cleft... ORPHA:2117
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Iniencephaly
Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Syringomyelia, Orofacial cleft,... ORPHA:63259
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Mosaic Trisomy 9
Tessier cleft, Intestinal malrotation, Spina bifida, Microphthalmia, High palate, Cleft palate ORPHA:99776
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect OMIM:616589
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... OMIM:212066
Developmental And Epileptic Encephalopathy 80
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... OMIM:618580
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida OMIM:207950
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Joubert Syndrome 15
Exencephaly OMIM:614464
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... OMIM:610253
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microphthalmia, Cleft palate OMIM:613885
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Intellectual Developmental Disorder, Autosomal Dominant 72
Thin upper lip vermilion, Smooth philtrum, Spina bifida OMIM:620439
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular sep... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Bilateral microphthalmos, Thick anterior alveolar ridges, Hydrocep... ORPHA:2839
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... OMIM:259775
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Hydrocephalus, Microphthalmia ORPHA:268249
Angelman Syndrome Due To A Point Mutation
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Microphthalmia, Syndromic 8
Cleft upper lip, Orofacial cleft, Microphthalmia, Widely-spaced maxillary central incisors, Cleft... OMIM:601349
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Angelman Syndrome
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Inguinal hernia, Protruding tongue, Everted lower lip vermilion, Mac... ORPHA:96147
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Contracture of the proximal inter... OMIM:620662
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
2Q24 Microdeletion Syndrome
Short philtrum, Abnormal oral frenulum morphology, Cleft palate, Microphthalmia ORPHA:1617
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Lip pit, Abnormal palate morphology, Hypodontia, Microphthalmia ORPHA:1236
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate OMIM:617804
Waardenburg Syndrome Type 1
Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Cl... ORPHA:894
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Joubert Syndrome 1
Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ... OMIM:601927
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Congestive heart failure, Secundum atrial septal defect... OMIM:608779
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Fountain Syndrome
Thick lower lip vermilion, Gingival overgrowth, Abnormal palate morphology, Everted lower lip ver... ORPHA:3219
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Umbilical hernia, Protruding tongue, Thick vermilion border,... OMIM:301040
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Non... ORPHA:1908
Acromelic Frontonasal Dysostosis
Midline facial cleft, Submucous cleft soft palate, Encephalocele, Cleft palate OMIM:603671
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Woods Syndrome
Ventricular septal defect OMIM:615236
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anencephaly, Cleft palate OMIM:611134
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atresia, Abnormal left... OMIM:301056
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Nanophthalmos
Microphthalmia ORPHA:35612
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Short hard palate, Spina bifida, Meningocele, Glossoptosis, Cl... ORPHA:1393
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Tessier number 13 facial cleft, Encephalocele, Microphthalmia... OMIM:613451
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Camptodactyl... ORPHA:79324
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hyd... ORPHA:2189
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Pierpont Syndrome
Widely spaced teeth, Thin upper lip vermilion, Smooth philtrum, Everted lower lip vermilion, Long... ORPHA:487825
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Cleft palate, Microphthalmia ORPHA:306542
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Double Outlet Left Ventricle
Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmona... ORPHA:3427
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Spina bifida occulta, H... ORPHA:2437
Fraser Syndrome 1
Tessier cleft, Difficulty in tongue movements, Dental crowding, Dental malocclusion, Cleft upper ... OMIM:219000
Nanophthalmos 4
Microphthalmia OMIM:615972
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Median cleft upper lip, Ethmocephal... OMIM:236100
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Median cleft palate, Median cleft upper l... OMIM:136760
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Leukocyte Adhesion Deficiency Type Ii
Umbilical hernia, Gingival overgrowth, Protruding tongue, Deep philtrum, Long upper lip, Narrow p... ORPHA:99843
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Macroglossia, High palate, Protruding tongue OMIM:214100
Angelman Syndrome
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:72
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Braddock-Carey Syndrome 2
Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spin... ORPHA:3412
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Microphthalmia OMIM:613155
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Hydrocephalus, Cleft palate ORPHA:1926
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... OMIM:142900
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Ventricular septal defect ORPHA:254534
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Umbilical hernia, Inguinal hernia, Abn... ORPHA:261318
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Abnormality of the pancreas, Hydrocephalu... ORPHA:3376
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, Smooth philtrum, Everted lower lip vermilion... OMIM:602342
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Limb hypertonia, Ventricular septal defect OMIM:619909
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Trisomy 18
Narrow mouth, Anal atresia, Esophageal atresia, Spina bifida, Omphalocele, Microphthalmia, Narrow... ORPHA:3380
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,... ORPHA:163956
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Oral synechia, Cleft upper lip, Inguinal hernia, Omphalocele, Micro... OMIM:263650
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Okur-Chung Neurodevelopmental Syndrome
Umbilical hernia, Inguinal hernia, Protruding tongue, Thin upper lip vermilion, High palate OMIM:617062
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Sirenomelia
Sirenomelia, Anal atresia, Tracheoesophageal fistula, Spina bifida ORPHA:3169
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate ORPHA:66637
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de pointes, Prematur... OMIM:300855
3Mc Syndrome 3
Tessier cleft, Cleft upper lip, Cleft palate OMIM:248340
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen ovale, Dyspla... OMIM:157800
Developmental And Epileptic Encephalopathy 100
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... OMIM:619777
Keutel Syndrome
Pulmonary artery stenosis, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal... ORPHA:1425
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... OMIM:301039
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia,... OMIM:615668
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:290
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:500159
Waardenburg Syndrome, Type 1
Myelomeningocele, Smooth philtrum, Orofacial cleft, Spina bifida, Hypoplastic iris stroma OMIM:193500
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Single ventricle OMIM:619879
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Microphthalmia, Short ... ORPHA:1598
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Fontaine Progeroid Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Umbilical hernia, Narrow mouth, Protr... OMIM:612289
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Atrial septal defect, Tac... ORPHA:980
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Focal Dermal Hypoplasia
Abnormality of the dentition, Tooth agenesis, Open bite, Abnormal dental enamel morphology, Abnor... ORPHA:2092
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Apical muscular ventricular septal defec... OMIM:301022
Filippi Syndrome
Ventricular septal defect OMIM:272440
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, N... OMIM:234100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy, Amyotrophic lateral sclerosis OMIM:613435
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:619769
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect OMIM:619995
Neu-Laxova Syndrome 2
High palate, Spina bifida, Cleft palate OMIM:616038
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Cofs Syndrome
Everted lower lip vermilion, Microphthalmia ORPHA:1466
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mi... OMIM:121050
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate ORPHA:1473
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... OMIM:618223
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Prune Belly Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Aplasia of the abdominal wa... ORPHA:2970
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Ventricular septal defect OMIM:113000
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior vena cava, Persi... OMIM:618775
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... OMIM:147250
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Degcags Syndrome
Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum, Intestinal atr... OMIM:619488
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Spinal dysraphism, Tethered cord, Submucous cleft hard palate OMIM:617660
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Umbilical hernia, Short philtrum, Everted lower lip vermilion, Hydrocephalus... OMIM:613776
Basal Cell Nevus Syndrome 1
Cleft upper lip, Microphthalmia, Hydrocephalus, Odontogenic keratocysts of the jaw, Spina bifida,... OMIM:109400
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia, Bladder exstrophy ORPHA:83628
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect OMIM:617751
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex... OMIM:210710
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Flexion contracture, ... OMIM:619503
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:618494
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aorta, Atrial sep... OMIM:606003
Frontorhiny
Cranium bifidum occultum, Encephalocele, Basal encephalocele, Microphthalmia, Bifid tongue, Cleft... ORPHA:391474
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Joubert Syndrome 14
Tented upper lip vermilion, Open mouth, Encephalocele, Hydrocephalus, Meningocele, Microphthalmia... OMIM:614424
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Cloacal Exstrophy
Intestinal duplication, Intestinal malrotation, Myelomeningocele, Spina bifida, Omphalocele, Anal... ORPHA:93929
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... OMIM:617201
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... ORPHA:2519
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Microphthalmia, Cleft palate, Optic nerve hypoplasia ORPHA:85284
Neu-Laxova Syndrome
Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilion, Abnormality of the philtru... ORPHA:2671
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Nail-Patella Syndrome
Microphakia, Cleft upper lip, Spina bifida, Cleft palate OMIM:161200
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate ORPHA:2003
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, S... OMIM:618870
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip vermilion, Short... OMIM:612530
Warburg Micro Syndrome 1
Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect OMIM:608572
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Trisomy 8Q
Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion... ORPHA:1752
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... ORPHA:329224
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Temtamy Syndrome
Microphthalmia, Abnormal palate morphology, Thick lower lip vermilion ORPHA:1777
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... ORPHA:2008
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft lip, Accessory oral frenulum, Bilateral cleft palate OMIM:619339
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Long philtrum ORPHA:50945
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate, Microphthalmia ORPHA:261272
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Braddock-Carey Syndrome 1
Camptodactyly, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Fanconi Anemia, Complementation Group R
Agenesis of permanent teeth, Hydrocephalus, Microphthalmia, Anal atresia, Tethered cord OMIM:617244
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:612562
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Encephalocele, Microphthalmia, Broad philtrum ORPHA:228390
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect OMIM:615879
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect ORPHA:1488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Patent foramen ovale OMIM:616789
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia ORPHA:858
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... OMIM:616564
Limb Body Wall Complex
Cleft lip, Myelomeningocele, Encephalocele, Short umbilical cord, Abnormal intestine morphology, ... ORPHA:2369
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Microdontia OMIM:619694
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Hartnup Disorder
Glossitis OMIM:234500
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele, Cleft palate ORPHA:60015
Seckel Syndrome 2
Microphthalmia, Microglossia, Microdontia OMIM:606744
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Joint contracture of the hand, Tetralogy of Fallot, Ventric... OMIM:280000
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Pelger-Huet Anomaly
Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se... ORPHA:369891
Cat-Eye Syndrome
Anal atresia, Microphthalmia ORPHA:195
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Abnormal cardiac septum morphology, Single ventricle OMIM:308050
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Thin upper lip v... ORPHA:404440
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal de... OMIM:609029
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Holoprosencephaly
Spinal dysraphism, Tooth agenesis, Median cleft palate, Encephalocele, Branchial anomaly, Anophth... ORPHA:2162
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,... OMIM:309580
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula... ORPHA:1335
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Torticollis ORPHA:276432
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Gingival overgrowth, Open mouth, Ir... OMIM:619148
Wildervanck Syndrome
Meningocele ORPHA:3456
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... OMIM:612582
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Coronary artery atherosclerosis, Ventricular s... ORPHA:435638
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia OMIM:602361
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... OMIM:314390
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Bilateral microphtha... OMIM:610828
Humero-Radial Synostosis
Meningocele ORPHA:3265
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat... OMIM:620454
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... OMIM:300166
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia, Microphthalmia OMIM:614526
Aicardi Syndrome
Cleft upper lip, Hiatus hernia, Spina bifida, Microphthalmia, Cleft palate OMIM:304050
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Anophthalmia, Aplasia/Hypoplasi... ORPHA:3378
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Hypoplasia of the musculature, Atrial septal dilatation, Scap... OMIM:278250
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Fetal Alcohol Syndrome
Microdontia, Thin upper lip vermilion, Smooth philtrum, Microphthalmia, Non-midline cleft of the ... ORPHA:1915
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect OMIM:614961
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Microphthalmia, Macroglossia, Optic nerve hypoplasia ORPHA:370959
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular s... OMIM:616777
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Encephalocele, Incomplete cleft of the upper lip, Om... OMIM:616300
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Encephalocele, Buphthalmos, Hydrocephalus, Microphthalmia, Macroglossia, Cleft p... OMIM:613150
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Baraitser-Winter Syndrome 1
Long philtrum, Cleft upper lip, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide m... OMIM:243310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Wide mouth, Hydrocephalus, Microphthalmia ORPHA:163966
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Umbilical hernia, Inguinal hernia, Microphthalmia, Cleft palate ORPHA:2505
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Varicose veins, Patent ductus arteriosus OMIM:153400
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Contracture of the distal interphalangeal joint of the ... ORPHA:83617
Basel-Vanagaite-Smirin-Yosef Syndrome
Furrowed tongue, Tented upper lip vermilion, Inguinal hernia, Everted lower lip vermilion, High p... OMIM:616449
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Encephalocele, Median cleft upper lip, Hydrocephalus, Ompha... OMIM:264480
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph... ORPHA:2166
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Limb hypertonia, Camptodactyly of finger, Ventricular septal defect OMIM:616920
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Atrial septal defect, Ventricular septal defect OMIM:617452
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:220500
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... OMIM:244300
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... ORPHA:1780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Codas Syndrome
Ventricular septal defect ORPHA:1458
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Downturned corners of mouth, Long philtrum, Microphthalmia, High palate, Cleft palate ORPHA:163649
22Q11.2 Deletion Syndrome
Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Intestinal malrotat... ORPHA:567
Ring Chromosome 10 Syndrome
Thin vermilion border, Aganglionic megacolon, Long philtrum, Microphthalmia ORPHA:1438
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru... ORPHA:1942
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... ORPHA:3071
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... OMIM:208085
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... OMIM:613001
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Inguinal hernia, Microdontia ORPHA:3191
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Alg3-Cdg
Decreased liver function, Abnormality of the gastrointestinal tract, Macroglossia, High palate, A... ORPHA:79321
Marden-Walker Syndrome
High, narrow palate, Long philtrum, Narrow mouth, Inguinal hernia, Microphthalmia, High palate, C... OMIM:248700
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Umbilical hernia, Aplasi... ORPHA:84
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Microphthalmia, Thin vermilion border OMIM:214150
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa... ORPHA:364577
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Tented upper lip vermilion, High palate, Microphthalmia, Short philtrum OMIM:614105
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t... ORPHA:457279
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... OMIM:602782
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... OMIM:253800
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, M... OMIM:600145
Carpenter Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... OMIM:201000
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Exaggerated cupid's bow, Smooth philtrum, Deep philtrum, Thick vermilion border, Micro... OMIM:620098
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Omphalocele, Bif... ORPHA:93271
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Microphthalmia ORPHA:627
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Orofacial cleft, Hydrocephalus, Microphthalmia, Anal atresia, Septo-optic dysplasia ORPHA:3301
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Atrial septal defect, Ventricular septal defect ORPHA:505237
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Narrow mouth, Holoprosencephaly, Cleft palate OMIM:202650
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arte... ORPHA:96170
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Fanconi Anemia, Complementation Group S
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Microphthalmia, Narrow palate OMIM:617883
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Recombinant 8 Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi... ORPHA:96167
Jacobsen Syndrome
Long philtrum, Intestinal malrotation, Inguinal hernia, Abnormal palate morphology, Smooth philtr... ORPHA:2308
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Microphthalmia OMIM:152950
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Patent ductus arteriosus, E... OMIM:313850
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Unilateral microphthalmos, Bilateral cleft palate, Thin upper lip vermilion, Bilat... OMIM:618874
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
3Q29 Microduplication Syndrome
Abnormality of the dentition, Aniridia, Ectopic anus, Deep philtrum, Microphthalmia, High palate,... ORPHA:251038
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Fryns Syndrome
Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotation, Tented upper lip vermi... ORPHA:2059
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Campomelic Dysplasia
Carious teeth, Spinal dysraphism, Long philtrum, Narrow mouth, Irregular dentition, Submucous cle... OMIM:114290
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric... OMIM:613309
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:611812
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Trisomy 1Q
Congenital diaphragmatic hernia, Patent ductus arteriosus, Camptodactyly of finger, Ventricular s... ORPHA:261344
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:620113
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Long philtrum ORPHA:2211
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis, Congenital hepatic fibrosis ORPHA:2031
Neu-Laxova Syndrome 1
Hydranencephaly, Cleft upper lip, Thick lower lip vermilion, Small placenta, Short umbilical cord... OMIM:256520
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Duodenal stenosis ORPHA:2547
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Waardenburg Syndrome
Myelomeningocele, Intestinal obstruction, Aganglionic megacolon, Orofacial cleft, Abnormality of ... ORPHA:3440
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:192430
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Hydrocephalus, Microphthalmia, Cleft palate ORPHA:899
Combined Oxidative Phosphorylation Deficiency 15
Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Pagod Syndrome
Meningocele, Spina bifida, Encephalocele, Omphalocele ORPHA:991
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue OMIM:613443
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Stevenson-Carey Syndrome
Microphthalmia, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence OMIM:611961
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Temtamy Syndrome
Hypoplasia of teeth, Dental crowding, Long philtrum, Microphthalmia OMIM:218340
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... ORPHA:1708
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Downturned corners of mouth, Long philtrum, Deep philtrum, Microphthalmia, Cleft palate OMIM:618571
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Microphthalmia, Hypoplasia of teeth, Cleft palate ORPHA:2728
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... OMIM:608670
Microphthalmia With Limb Anomalies
Cleft upper lip, Anophthalmia, Deep philtrum, Microphthalmia, High palate, Cleft palate OMIM:206920
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Camptodactyly of finger... ORPHA:354
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Inguinal hernia, Submucou... ORPHA:2250
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
Curry-Jones Syndrome
Anal stenosis, Lip pit, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningoce... OMIM:601707
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Narrow mouth, Exaggerated cupid's bow, Spina bifida, Thick vermilion border, Tethere... OMIM:619480
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
ERI1-related disease
Abnormal heart morphology, Tricuspid regurgitation, Pulmonary arterial hypertension, Ventricular ... OMIM:608739
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... OMIM:617602
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... OMIM:309520
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence OMIM:613604
Neurocutaneous Melanocytosis
Meningocele, Death in infancy ORPHA:2481
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Inguinal hernia, Umbilical hernia OMIM:618914
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Narrow mouth, Microphthalmia OMIM:614833
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Adams-Oliver Syndrome 2
Hydrocephalus, Microphthalmia OMIM:614219
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Alagille Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... ORPHA:52
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... OMIM:258860
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Microphthalmia OMIM:300863
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip... OMIM:174300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Microphthalmia OMIM:615249
Moebius Syndrome
Bifid uvula, High palate, Abnormality of the dentition, Microphthalmia OMIM:157900
X Small Rings
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect ORPHA:96201
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Orofaciodigital Syndrome Ii
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Hydrocephalus, Bifi... OMIM:252100
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Orofacial cleft, Everted lower lip vermilion, High... ORPHA:65286
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Cleft palate, Umbilical hernia ORPHA:2311
Holoprosencephaly 9
Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic... OMIM:610829
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... OMIM:178110
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Microphthalmia, Eclabion, Pyloric stenosis OMIM:616395
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Encephalocele, Anophthalmia, Aplasia/Hypoplasi... ORPHA:564
Stromme Syndrome
Intestinal malrotation, Jejunal atresia, Hydrocephalus, Microphthalmia, Wide mouth, Duodenal atre... OMIM:243605
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate ORPHA:3201
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus, Refle... ORPHA:79329
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Patent ... OMIM:130720
Joubert Syndrome 22
Microphthalmia OMIM:615665
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy ORPHA:54028
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm... ORPHA:261494
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Delayed eruption of teet... OMIM:257850
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Coffin-Siris Syndrome 4
Macroglossia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery a... OMIM:614609
Joubert Syndrome 37
High palate, Microphthalmia OMIM:619185
Cousin Syndrome
Hydranencephaly, Microglossia, Alveolar ridge overgrowth, Hydrocephalus, Microphthalmia, Cleft pa... OMIM:260660
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... OMIM:614653
Chops Syndrome
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... OMIM:616368
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Microphthalmia OMIM:619053
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620024
Orofaciodigital Syndrome I
Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ... OMIM:311200
Rodrigues Blindness
Tooth malposition, Microphthalmia OMIM:268320
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:222448
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Meckel diverticulum, Spina bifida, Cleft palate OMIM:274000
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Narrow mouth, Microphthalmia, High palate, Cleft palate OMIM:156610
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Inguinal hernia, Exaggerated cu... ORPHA:464738
Steinfeld Syndrome
Bifid uvula, Median cleft palate, Median cleft upper lip, Microphthalmia, Holoprosencephaly OMIM:184705
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Abnormal dental morphology, Open mouth, Everted lower lip vermilion, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Abnormal dental morphology, Open mouth, Everted lower lip vermilion, Spina bifida,... ORPHA:363958
Acromelic Frontonasal Dysplasia
Meningocele, Median cleft palate, Encephalocele ORPHA:1827
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Narrow mouth, Cleft palate, Microphthalmia OMIM:251230
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Inguinal hernia, Hydrocephalus, Microphthalmia, High palate ORPHA:250989
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Ohdo Syndrome, X-Linked
Long philtrum, Widely spaced teeth, Narrow mouth, Inguinal hernia, Microdontia, Hiatus hernia, Sm... OMIM:300895
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricu... OMIM:615582
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Ventricular se... OMIM:235255
Femoral-Facial Syndrome
Long philtrum, Inguinal hernia, Encephalocele, Thin upper lip vermilion, Smooth philtrum, Spina b... OMIM:134780
Trisomy 8P
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Abnormal left ventricle morphology, He... ORPHA:264450
Cartilage-Hair Hypoplasia
Spinal dysraphism, Gingival overgrowth, Abnormal palate morphology, Aganglionic megacolon, Aplasi... ORPHA:175
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... OMIM:300998
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:617360
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord OMIM:612918
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Microdontia, Oligodontia, Ename... OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Microphthalmia, Buphthalmos, Anal atresi... OMIM:236670
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small h... OMIM:610443
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... OMIM:616894
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Microphthalmia ORPHA:139471
16P13.11 Microdeletion Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:261236
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Intestinal lymphangiectasia, Ventricular septal defect, Thyroid ly... OMIM:235510
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Narrow mouth, Exaggerated cupid's bow,... ORPHA:284160
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Thin upper lip vermilion, Microphthalmia, Thin vermilion border OMIM:241410
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Orofacial cleft, Hydroc... ORPHA:77301
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... ORPHA:261330
Cerebellofaciodental Syndrome
Mitral valve prolapse, Ventricular septal defect OMIM:616202
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Exaggerated cupid's bow, High palate, Microphthalmia, Short philtrum... OMIM:614230
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect OMIM:243150
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620558
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Ventricul... ORPHA:141127
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:620654
Mosaic Trisomy 1
Thick lower lip vermilion, Orofacial cleft, Omphalocele, Short upper lip, Microphthalmia, Wide mo... ORPHA:1692
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... ORPHA:1452
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
9Q21.13 Microdeletion Syndrome
Syringomyelia, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Frontofacionasal Dysplasia
Cranium bifidum occultum, Bifid uvula, Cleft upper lip, Orofacial cleft, Microphthalmia OMIM:229400
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Teebi-Shaltout Syndrome
High, narrow palate, Prominent palatine ridges, Narrow mouth, Oligodontia, Smooth philtrum, Micro... OMIM:272950
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:79345
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:209905
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Spinal cord compression, Glossoptosis ORPHA:93346
Otopalatodigital Syndrome Type 2
Myelomeningocele, Narrow mouth, Encephalocele, Oligodontia, Anodontia, Hydrocephalus, Omphalocele... ORPHA:90652
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... ORPHA:453499
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Abnormal dental morphology, Orofacial cl... ORPHA:568
Martsolf Syndrome 1
Tooth malposition, Long philtrum, Inguinal hernia, High palate, Microphthalmia, Short philtrum OMIM:212720
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... ORPHA:444072
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... OMIM:620663
Warburg Micro Syndrome 4
Narrow mouth, Long philtrum, Microphthalmia OMIM:615663
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Microphthalmia ORPHA:335
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Inguinal hernia, Syringomyelia, Glossoptosis, Cleft palate ORPHA:436003
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele, Esophageal varix, Microphthalmia ORPHA:974
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:300712
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Macroglossia, Patent ductus arteriosus, Ventricular septal defect ORPHA:96191
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl... OMIM:164200
De Barsy Syndrome
Prominent veins on trunk, Decreased muscle mass, Ventricular septal defect, Persistent left super... ORPHA:2962
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate OMIM:615065
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Arrhythmia, Camptodactyly of finger, Ventricular septal d... ORPHA:3138
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p... OMIM:277170
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Narrow mouth, Gastroschisis, Jejunal atresia, Hypodontia, High ... ORPHA:989
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Hamartomatous polyposis, Colon... ORPHA:2930
Vater/Vacterl Association
Occipital encephalocele, Tracheoesophageal fistula, Esophageal atresia, Spina bifida, Anal atresi... OMIM:192350
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Microphthalmia OMIM:301108
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis... ORPHA:1358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Microphthalmia OMIM:616538
Joubert Syndrome 2
Hydrocephalus, High palate, Encephalocele, Microphthalmia OMIM:608091
Incontinentia Pigmenti
Delayed eruption of teeth, Umbilical hernia, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:464
Mandibuloacral Dysplasia
Abnormally large globe, Dental crowding, Abnormal tongue morphology, High palate, Hypoplasia of t... ORPHA:2457
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
3Mc Syndrome 1
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Pa... OMIM:257920
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Long philtrum, Inguinal hernia, Deep philtrum, Everted lower lip ver... ORPHA:251014
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Microphthalmia OMIM:614222
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... ORPHA:289
Garg-Mishra Progeroid Syndrome
Dental crowding, Microphthalmia OMIM:620601
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Opitz Gbbb Syndrome
Aortic root aneurysm, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ... ORPHA:2745
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Limb hypertonia, Ventricular septal defect OMIM:609460
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:613457
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracran... ORPHA:163979
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Ventricular septal defect ORPHA:1655
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Cleft upper lip, Intestinal malrotation, Large placenta, An... OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Inguinal hernia, Spina bifida, Intussusception OMIM:614437
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft upper lip, Orofacial cleft, Omphalocele, Microphthalmia, Holoprosencephaly ORPHA:3186
Holoprosencephaly 2
Single ventricle OMIM:157170
Bohring-Opitz Syndrome
Camptodactyly, Flexion contracture, Atrial septal defect, Ventricular septal defect OMIM:605039
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a... ORPHA:1519
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Ventricular septal defect, Vascular dilatation, Atrial septal defect, Smal... OMIM:607323
Exstrophy-Epispadias Complex
Anal stenosis, Inguinal hernia, Hydrocephalus, Omphalocele, Spina bifida, Anal atresia, Bladder e... ORPHA:322
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Inguinal hernia, M... OMIM:269860
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ... OMIM:618454
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Oligodontia, Microphthalmia, Wide mouth, Cleft palate OMIM:201180
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ... ORPHA:1465
Dubowitz Syndrome
Carious teeth, Delayed eruption of teeth, Velopharyngeal insufficiency, Hypoplasia of the iris, A... OMIM:223370
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Microphthalmia, High palate, Hypoplasia of teeth... OMIM:603457
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand... OMIM:612109
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Deep philtrum, Everted lower lip ver... OMIM:613884
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology ORPHA:2759
Curry-Jones Syndrome
Intestinal malrotation, Microphthalmia ORPHA:1553
Codas Syndrome
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:600373
Autosomal Recessive Robinow Syndrome
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Umbilical hernia, Open ... ORPHA:1507
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... ORPHA:3474
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, High palate, Glossoptosis... OMIM:611209
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Microphthalmia, Anal atresia, Cleft palate, Gastroschisis OMIM:273395
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:619575
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, High palate, Hepatomegaly, Meningocele ORPHA:46059
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect ORPHA:1724
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Narrow mouth, Hydrocephalus, Omphalocele, Spina bifida, Cleft palate OMIM:304120
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeni... ORPHA:2052
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Interrupted inferior vena cava with azygous continuation, Ventri... OMIM:618846
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... OMIM:164280
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth... ORPHA:2108
Micro Syndrome
Short philtrum, High palate, Microphthalmia ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Optic nerve hypoplasia, Encephalocele, Microphthalmia OMIM:614643
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Microphthalmia, Anal atresia,... OMIM:146510
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microphthalmia ORPHA:1806
Fanconi Anemia, Complementation Group L
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Microphthalmia, Anal atresia, Cleft... OMIM:614083
Microphthalmia With Limb Anomalies
Long philtrum, Cleft upper lip, Macrodontia, True anophthalmia, Hydrocephalus, Microphthalmia, Th... ORPHA:1106
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Macroglossia, Mitral valve prolapse, Ventricular septal defect OMIM:617107
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgitation, Abnormal renal... ORPHA:79328
Phocomelia, Schinzel Type
High, narrow palate, Anal atresia, Tracheoesophageal fistula, Meningocele, Cleft palate ORPHA:2879
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect... ORPHA:464311
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:244450
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Duodenal stenosis ORPHA:2470
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Ventricular septal defect, Macroglossia, Pulmonic stenosis ORPHA:488632
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... ORPHA:3047
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect OMIM:620568
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of toe... ORPHA:261337
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Microphthalmia,... ORPHA:534
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Aortic regurgitation, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Rabson-Mendenhall Syndrome
Macroglossia, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cleft palate, Microphthalmia ORPHA:2714
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Coarctation of aor... OMIM:139210
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... ORPHA:2752
Leigh Syndrome
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... ORPHA:506
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Microphthalmia OMIM:619135
Galloway-Mowat Syndrome 3
Hiatus hernia, High palate, Narrow mouth, Microphthalmia OMIM:617729
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin... OMIM:305600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Anencephaly, Cleft palate OMIM:616546
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Long philtrum, Large placenta, Narrow mouth, Tented upper lip vermilion, Deep ... ORPHA:96334
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect OMIM:227645
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect OMIM:616682
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect OMIM:619229
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Syringomy... OMIM:616580
X-Linked Dominant Chondrodysplasia Punctata
High palate, Microphthalmia ORPHA:35173
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Varicose v... ORPHA:500095
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect OMIM:263520
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Anteriorly placed anus, Microphthalmia ORPHA:1352
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, A... OMIM:614866
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Mend Syndrome
Asymmetry of the mouth, Hydrocephalus, Microphthalmia, High palate, Cleft palate ORPHA:401973
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Bilateral microphthalmos OMIM:610758
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... OMIM:245150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:352665
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue ORPHA:140936
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Aortic aneurys... ORPHA:96121
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Intestinal malrotation, Esophagitis, Anophthalmia, Perineal fistula, Hiatus hernia,... ORPHA:2538
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Multiple joint contractures, Ventricular septal defe... ORPHA:464306
Jacobsen Syndrome
Macular hypoplasia, Hydrocephalus, Microphthalmia, Holoprosencephaly, U-Shaped upper lip vermilio... OMIM:147791
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Distal arthrogryposis, Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Atelis Syndrome 2
Downturned corners of mouth, Diastema, Thick lower lip vermilion, Microphthalmia, High palate OMIM:620185
Robinow Syndrome
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... ORPHA:97360
Catel-Manzke Syndrome
Ventricular septal defect, Overriding aorta, Coarctation of aorta, Dextrocardia, Camptodactyly OMIM:616145
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Camptodactyly, Fa... OMIM:300373
Fryns Syndrome
Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal malrotation, Tented upper lip ver... OMIM:229850
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Hiatus hernia, Microphthalmia, High palate, Wide mouth OMIM:251300
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Mosaic Variegated Aneuploidy Syndrome
Stomach cancer, Intestinal polyposis, Microphthalmia, Holoprosencephaly, Duodenal atresia, Cleft ... ORPHA:1052
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Gastroesophageal reflux, Occipital encephalocele, Elevated circulating hepatic trans... ORPHA:397715
Refsum Disease
Microphthalmia ORPHA:773
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi... ORPHA:2754
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... OMIM:268310
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Camptodactyly of finger, Tr... OMIM:143095
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Occipital meningocele, Esophageal v... OMIM:243910
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Microphthalmia, Anal atresia, Esophageal diverticulu... OMIM:617925
Oculodentodigital Dysplasia
Arrhythmia, Camptodactyly of finger, Ventricular septal defect ORPHA:2710
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Tongue atrophy, Xerostomia, Amyotrophic lateral sclerosis ORPHA:803
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Intestinal obstruction, Microphthalmia OMIM:601675
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect ORPHA:1199
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate OMIM:311900
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Orofacial cleft, Tracheoesophageal fistula, High palate, Short ... ORPHA:958
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ... ORPHA:444077
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op... ORPHA:2750
Larsen Syndrome
Aortic aneurysm, Atrial septal defect, Ventricular septal defect OMIM:150250
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Proboscis Lateralis
Long philtrum, Anophthalmia, Orofacial cleft, Agenesis of canine, Microphthalmia, High palate, Ho... ORPHA:141099
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Aicardi Syndrome
Cleft upper lip, Intestinal polyposis, Hiatus hernia, Microphthalmia, Short philtrum, Cleft palate ORPHA:50
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventricular septa... OMIM:154400
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate OMIM:300534
Hardikar Syndrome
Portal hypertension, Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, ... OMIM:301068
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Abnormal heart morphology, Radial artery aplasia, Ventricular... ORPHA:124
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm... ORPHA:570
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353281
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Pulmonary arterial hypertension, At... OMIM:602535
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defect, Small the... OMIM:613458
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long philtrum, Microphthalmia OMIM:615877
Diamond-Blackfan Anemia 1
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... OMIM:105650
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent teeth, Microdontia, Micr... OMIM:268400
Trichothiodystrophy
Multiple joint contractures, Cardiomyopathy, Ventricular septal defect ORPHA:33364
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Autosomal Dominant Robinow Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Umbilical hernia, Open bite, Gin... ORPHA:3107
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Hypoplasia of the fovea, Hypodontia, Micro... OMIM:308300
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Narrow philtrum, Delayed eruption of teeth, Microphthalmia OMIM:601812
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:117650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect OMIM:619418
Hydrolethalus Syndrome 1
Median cleft upper lip, Omphalocele, Microphthalmia, Anencephaly, Cleft palate, Severe hydrocephalus OMIM:236680
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, Microphthalmia, High palate, ... OMIM:616975
Hajdu-Cheney Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Mitral stenosis, Ventricular septal defect ORPHA:955
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615108
Hartnup Disease
Gingivitis, Glossitis ORPHA:2116
Renpenning Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... OMIM:309500
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Cervical spinal cord atrophy, Optic nerve hypoplasia ORPHA:101085
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Branchial cyst, Ankylogloss... OMIM:620186
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia OMIM:175500
Yunis-Varon Syndrome
High, narrow palate, Bilateral microphthalmos, Gingival recession, Broad secondary alveolar ridge... ORPHA:3472
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Complete a... ORPHA:508488
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Cleft palate ORPHA:79284
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... OMIM:218040
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Monosomy 9P
Abnormality of the dentition, Long philtrum, Narrow mouth, Microphthalmia, High palate, Cleft palate ORPHA:261112
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Spinal cord compression, Cleft palate ORPHA:94068
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle... OMIM:271640
Acrodermatitis Enteropathica
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis ORPHA:37
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615109
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... ORPHA:1401
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Narrow mouth, Anophthalmia, Aqueduc... ORPHA:138
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Carey-Fineman-Ziter Syndrome 1
Microglossia, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:254940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p... OMIM:613091
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Branchial anomaly, Anophthalmia, Hydrocephalus, Microph... OMIM:164210
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Microphthalmia OMIM:110100
X-Linked Agammaglobulinemia
Glossoptosis ORPHA:47
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Widely spaced teeth, Umbilical hernia, Ankyloglossia, S... OMIM:619539
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Flexion contracture, Paten... OMIM:617140
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Narrow mouth, Microdontia, Thin upper lip vermilion, Microphthalmia, Cleft palate OMIM:616734
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Congenital diaphragmatic hernia, Ve... ORPHA:373
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:163950
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Rectal atresia, Microphthalmia, Anal atresia OMIM:617666
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis OMIM:277380
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Occipital encephalocele, Anteriorly placed anus, Hamartoma of tongue, Apl... OMIM:615948
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Hypoplasia of the iris, Delayed eruption of primary teeth, Mi... OMIM:133540
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonary artery stenosis, Atria... ORPHA:459070
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Patent ductus ... OMIM:619534
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Arboleda-Tham Syndrome
Secundum atrial septal defect, Lower limb hypertonia, Ventricular septal defect, Atrial septal de... OMIM:616268
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland mor... OMIM:154500
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ... ORPHA:268261
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Microphthalmia OMIM:227646
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Fanconi Anemia, Complementation Group F
Duodenal atresia, Microphthalmia OMIM:603467
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Transposition of the great arteries, Atrial... ORPHA:1662
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Traboulsi Syndrome
Bifid uvula, High palate, Dental malocclusion, Microphthalmia OMIM:601552
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:158350
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Carpenter Syndrome 2
Tricuspid regurgitation, Situs inversus totalis, Knee flexion contracture, Transposition of the g... OMIM:614976
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... OMIM:607872
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... OMIM:616462
Tarp Syndrome
Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft pala... ORPHA:2886
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Microphthalmia OMIM:608940
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353277
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Right aortic arch, Ventricular septal defect ORPHA:513456
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon ORPHA:1051
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Microphthalmia, Thin vermilion border, High palate, U-Shaped upper lip vermilion OMIM:609945
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:188400
Roberts Syndrome
Microphthalmia, High palate, Cleft palate, Cleft upper lip ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Narrow mouth, Smooth philtrum, Lobar holoprosencephaly, Duodenal atresi... ORPHA:468631
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Papillorenal Syndrome
Microphthalmia OMIM:120330
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Smooth philtrum, Thick vermilion border, Microdontia OMIM:620005
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Abnormal rectum morphology, Anophthalmia, Abnormality of the a... ORPHA:2556
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:270400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Long philtrum, Thick vermilion border ORPHA:2526
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega... OMIM:619991
Witteveen-Kolk Syndrome
High, narrow palate, Branchial fistula, Long philtrum, Thick lower lip vermilion, Narrow mouth, O... OMIM:613406
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati... OMIM:312870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Everted lower lip vermilion, Microphthalmia, Buphthalmos OMIM:253280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Cockayne Syndrome
Carious teeth, Dental malocclusion, Agenesis of permanent teeth, Abnormal dental morphology, Dela... ORPHA:191
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Umbilical hernia, Inguinal hernia, Microphthal... ORPHA:672
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Pyloric stenosis OMIM:267750
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Atrophy of the spinal cord, Hydrocephalus, Glossitis, Stomatitis ORPHA:79282
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... ORPHA:158668
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia ORPHA:959
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Monosomy 13Q14
Holoprosencephaly, Microphthalmia ORPHA:1587
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis ORPHA:35858
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Carious teeth, Smooth tongue, Pursed lips OMIM:601559
Cockayne Syndrome Type 3
Carious teeth, Enamel hypoplasia, Microphthalmia ORPHA:90324
Generalized Pustular Psoriasis
Cheilitis, Geographic tongue ORPHA:247353
Kabuki Syndrome 1
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:147920
Mucoepithelial Dysplasia, Hereditary
Furrowed tongue, Erythematous oral mucosa OMIM:158310
Coffin-Siris Syndrome 1
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal de... OMIM:135900
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Anophthalmia, Microphthalmia, High palate, Cleft palate OMIM:607932
Branchiooculofacial Syndrome
Abnormality of the dentition, Cleft upper lip, Branchial anomaly, Lower lip pit, Anophthalmia, Mi... OMIM:113620
Stickler Syndrome
Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ... ORPHA:828
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:619522
Marfan Syndrome
High, narrow palate, Meningocele, Cleft palate ORPHA:558
Genitopatellar Syndrome
Knee flexion contracture, Atrial septal defect, Hip contracture, Ventricular septal defect OMIM:606170
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:107480
Wolf-Hirschhorn Syndrome
Atrial septal defect, Decreased muscle mass, Ventricular septal defect OMIM:194190
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Atrophy of the spinal cord ORPHA:466768
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Anophthalmia, Aganglion... OMIM:309800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Peters-Plus Syndrome
Diastasis recti, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmo... OMIM:261540
Sotos Syndrome
Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,... ORPHA:821
Roberts-Sc Phocomelia Syndrome
Cleft upper lip, Hydrocephalus, Frontal encephalocele, Microphthalmia, High palate, Cleft palate OMIM:268300
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos ORPHA:93325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Portal hypertension, Ventricular septal defect, V... OMIM:243800
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology ORPHA:653
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonar... ORPHA:261552
Cowden Syndrome
Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis ORPHA:201
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Hydrocephalus, Microphthalmia OMIM:175780
Glucagonoma
Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction ORPHA:97280
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Microphthalmia OMIM:309000
Norrie Disease
Thin vermilion border, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a... OMIM:216340
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Hypertrophic cardiomyopathy, Congenital ... OMIM:601803
Townes-Brocks Syndrome
Anteriorly placed anus, Rectoperineal fistula, Microphthalmia, Anal atresia, Rectovaginal fistula... ORPHA:857
Microsporidiosis
Glossitis ORPHA:2552
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Narrow palate, High palate, Occipital meningocele OMIM:276820
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue ORPHA:3206
Plague
Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Glossitis ORPHA:707
Carney Complex
Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto... ORPHA:1359

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 Shroom3

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 Shroom3.

No publications found that use IMPC mice or data for Shroom3.

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
Shroom3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Shroom3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shroom3em1(IMPC)Bay Exon Deletion Mice

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