Gene Summary

Name:
bromodomain adjacent to zinc finger domain, 1B
Synonyms:
Wbscr9,  WSTF

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Baz1btm2a(KOMP)Wtsi HET   Early adult 5.10×10-05
decreased circulating HDL cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 9.44×10-05
decreased body weight Baz1btm2a(KOMP)Wtsi HET Early adult 9.45×10-07
decreased circulating cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 7.85×10-06
decreased body weight Baz1btm2a(KOMP)Wtsi HOM Early adult 2.74×10-11

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.

Legacy Phenotype Associated Images

View all 285 images

Human diseases caused by Baz1b mutations

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

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

The table below shows human diseases associated to Baz1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Williams Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, A... ORPHA:904

The table below shows human diseases predicted to be associated to Baz1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Abnormal heart morphology, Patent ductus arteriosus, ... OMIM:618164
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Narrow palate, Dental malocclusion, Increased overbite, High p... OMIM:613684
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Anteverted nares, Abnormality of the dentition, High palate, Microgna... ORPHA:217340
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta OMIM:614300
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... ORPHA:1832
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Left ventricular hypertrophy, Right ventricul... ORPHA:217607
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Transaldolase Deficiency
Coarctation of aorta, Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Mcdonough Syndrome
Open bite, Short philtrum, Underdeveloped nasal alae, Mandibular prognathia, Abnormal palate morp... ORPHA:2471
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Thin upper lip vermilio... OMIM:616331
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Right ventricular dilatation ORPHA:369847
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Mandibular prognathia, Short columella, Abnormality... ORPHA:1248
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:600987
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Catel-Manzke Syndrome
Cystic hygroma, Ventricular septal defect, Camptodactyly, Coarctation of aorta, Umbilical hernia,... OMIM:616145
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Noonan Syndrome 9
Ventricular septal defect, Webbed neck, Pulmonic stenosis, Coarctation of aorta, Short neck OMIM:616559
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Wide nasal bridge, M... OMIM:253250
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abno... ORPHA:1120
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Tongue atrophy, Short mandibular rami OMIM:141300
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Short nose, Mandibular prognathia, Abnormal... ORPHA:1327
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Wide mouth, Wide nasal bridge, Thin upper lip vermilion, Hi... OMIM:249630
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, High palate, Everted lower lip vermilion, Deep philtrum,... ORPHA:261120
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Adamantinoma
Hypercalcemia ORPHA:55881
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Diastema, Dental malocclusion, Micrognathia, Malar flattening, Broad c... ORPHA:436245
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Thin vermilion border, Long philtru... OMIM:257850
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Alpha-Mannosidosis
Open bite, Macroglossia, Narrow palate, Craniofacial hyperostosis, Mandibular prognathia, Recurre... ORPHA:61
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Peripartum Cardiomyopathy
Abnormal atrioventricular valve morphology, Left atrial enlargement, Left ventricular hypertrophy... ORPHA:563
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Everted lower lip vermilion, High palate, Micrognathia, Depressed... ORPHA:1695
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Coarctation of aorta, Congenital diap... OMIM:301022
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:606003
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Camptodactyly, Short neck, Muscular ventricular septal ... OMIM:618804
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Perimem... ORPHA:363444
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep phi... OMIM:137550
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Thick vermilion border, Hypodontia, High palate, Micrognathia OMIM:617061
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Mental Retardation With Language Impairment And With Or Without Autistic Features
Drooling, Open mouth, Short nose, Broad nasal tip, Retrognathia, Malar flattening OMIM:613670
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot OMIM:601005
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Choanal stenosis, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Abnormal hear... ORPHA:477817
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Right ventricular dilatation ORPHA:99105
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Hypoplasia of the maxilla, Depressed nasal ridge, Aplasia/Hypoplasia in... ORPHA:1529
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arteriosus, Pulmonic ... OMIM:616564
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryngeal strido... OMIM:616202
Noonan Syndrome 2
Atrial septal defect, Low posterior hairline, Arthrogryposis multiplex congenita, Abnormal corona... OMIM:605275
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta OMIM:614857
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Long nose, Dental malocclusion, Low hanging columella OMIM:613680
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Narrow nasal ridge, Short philtrum, Recurrent bronchitis, Drooling, Underdevel... OMIM:619293
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short nose, Abnormal palate morphology, Recurrent pneumonia, Intrauterine growth re... ORPHA:1495
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Furrowed tongue, Dental malocclusion, Micrognathia, Promin... OMIM:248950
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect OMIM:617159
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, High palate, Micrognathia, Short nose ORPHA:2598
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Micrognathia, Anteverted nares, Depress... OMIM:614744
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mandibular prognathia, Everted lower lip vermilion, Concave nasal ridge, Thick vermilion border, ... OMIM:603463
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Convex nasal ridge, Retrognathia, Large beaked nose, Dental malocclusion, Wide nose, Prominent nose OMIM:601552
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Unroofed coronary sinus, Right atrial enlargement, Anomalous o... ORPHA:99104
Three M Syndrome 2
Delayed eruption of teeth, Long philtrum, Anteverted nares, Thick vermilion border, Prominent nas... OMIM:612921
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Larsen-Like Syndrome
Wide anterior fontanel, Absent nasal bridge, Cleft palate, Dental malocclusion, Malar flattening OMIM:608545
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... ORPHA:85321
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Narrow mouth, Wide nasal bridge, Cleft palate, Micrognathia OMIM:614078
Short Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Underdeveloped nasal alae, Hypodontia, Wi... OMIM:269880
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Coarctation of aorta, Congenital ... OMIM:617602
Fanconi Anemia, Complementation Group S
Prominent nasal bridge, Narrow palate, Thick upper lip vermilion, Dental malocclusion, Anteverted... OMIM:617883
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High p... OMIM:264475
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Short nose, Microretrognathia, Abnormal palate morphology, Recurrent respiratory i... ORPHA:1389
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, T... OMIM:617877
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia, Failure to thrive OMIM:615863
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Prominent n... ORPHA:1200
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Perlman Syndrome
Short nose, Open mouth, High, narrow palate, Smooth philtrum, Wide nasal bridge, Broad alveolar r... ORPHA:2849
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mit... ORPHA:2008
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ... OMIM:615160
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:266510
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Diaphragmatic eventration, Generalized amyotrop... ORPHA:66634
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Mandibular prognathia, Wide nasal bridge, High palat... ORPHA:3079
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Prominent nasal tip, High pa... OMIM:610883
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Patent foramen ovale, Left ... OMIM:619167
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Depr... ORPHA:1906
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Webbed neck, Pulmonic stenosis, Short neck, Hype... OMIM:615279
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Pulmonary artery... ORPHA:99106
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:613458
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Thick nasal alae, Persistence of primary teeth, Wide nasal bridge... OMIM:618727
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Low posterior hairline, Spina bifida occulta, Muscular ventricular septal defect OMIM:619227
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Bifid uvula, High palate, Dental malocclusion, Depressed n... OMIM:612350
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Open mouth, Short nose, Thin upper lip vermilion, Intrauterine growth retardation, ... OMIM:613604
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, P... ORPHA:401935
Intellectual Developmental Disorder, X-Linked 21
Short nose, Open mouth, Dental crowding, Mandibular prognathia, Tented upper lip vermilion OMIM:300143
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Deep philtrum, Thin upper lip vermilion, High palate, Dental malocclusion, Micrognath... ORPHA:329178
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of... OMIM:156510
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Dental malocclusion, Open mouth, Wide nasal bridge OMIM:619149
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Taurodontia, Smooth philtrum, Wide nasal bridge, High p... OMIM:157980
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture, Foot dorsi... OMIM:615883
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Low posterior hairline, Coarctation of aorta OMIM:618929
Chung-Jansen Syndrome
Long philtrum, Short philtrum, Thin vermilion border, Short nose, High palate, Micrognathia, Ante... OMIM:617991
Harrod Syndrome
Narrow mouth, Intrauterine growth retardation, High palate, Dental malocclusion, Long nose ORPHA:2115
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Short nose, Smooth philt... OMIM:249620
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Short neck, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:300676
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Aortic valve stenosis, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac ... ORPHA:96147
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Redundant neck skin, C... OMIM:618652
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Hypoplasia of the maxilla, Wide nasal bridge, Malar flattening, Depr... ORPHA:261295
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arteriosus, Pulmonic ... OMIM:615355
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Mandibular prognathia, Dental malocclusion, Abnormality of dental morphology ORPHA:2785
Intermediate Osteopetrosis
Dental malocclusion, Abnormality of dental morphology, Abnormality of the dentition, Osteoscleros... ORPHA:210110
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Abnormality of the dentition, Wide nasal bridge, Tria... OMIM:618529
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Craniofaciofrontodigital Syndrome
Long philtrum, Short nose, Abnormality of the dentition, Dental malocclusion, Anteverted nares, D... OMIM:114620
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Short neck ORPHA:2516
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Large placenta, Crani... ORPHA:1708
Kabuki Syndrome 2
Atrial septal defect, Natal tooth, Pulmonic stenosis, Coarctation of aorta, Atrioventricular cana... OMIM:300867
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Anterior open-bite mal... ORPHA:3473
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus OMIM:601450
Distal Trisomy 18Q
Carious teeth, Short nose, Abnormality of dental morphology, Choanal atresia, High palate, Promin... ORPHA:1716
Pallister-Hall-Like Syndrome
Short nose, Microglossia, Pulmonary hypoplasia, Cleft palate, Micrognathia, Median cleft lip, Dep... OMIM:241800
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Abnorm... ORPHA:137888
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Short columella, Wide nasal bridge, Median cleft palate, Bifid nasal... OMIM:136760
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge ORPHA:438178
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Lowry-Maclean Syndrome
Atrioventricular canal defect, Delayed eruption of primary teeth, Coarctation of aorta, Congenita... ORPHA:2409
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ap... ORPHA:2847
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Short philtrum, Convex nasal ridge, Narrow mouth, Agenesis of permanent teeth, Den... ORPHA:251028
Trichorhinophalangeal Syndrome, Type I
Pear-shaped nose, Delayed eruption of teeth, Carious teeth, Long philtrum, Narrow palate, Deep ph... OMIM:190350
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Aplasia/Hypoplasia of the lungs, Cleft palate, Intrauterine growt... ORPHA:2145
Achondrogenesis
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:932
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Harrod Syndrome
Narrow mouth, High, narrow palate, High palate, Dental malocclusion, Long nose OMIM:601095
Stickler Syndrome Type 1
Long philtrum, Cleft palate, Short nose, Hypoplasia of the maxilla ORPHA:90653
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Dentinogenesis imperfecta, Retrognathia, Depressed nasal b... ORPHA:166272
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Short philtrum, Short nose, Wide nasal bridge OMIM:613603
Seckel Syndrome 1
Enamel hypoplasia, Convex nasal ridge, Dental crowding, Selective tooth agenesis, Cleft palate, I... OMIM:210600
Familial Parathyroid Adenoma
Hypophosphatemia, Mitral valve calcification, Hypercalcemia, Left ventricular hypertrophy, Aortic... ORPHA:99877
Van Maldergem Syndrome 2
Wide anterior fontanel, Downturned corners of mouth, Tented upper lip vermilion, Irregular dentit... OMIM:615546
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Hypoplasia of th... OMIM:618737
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge OMIM:615560
Sclerosteosis 1
Mandibular prognathia, Wide nasal bridge, Facial palsy secondary to cranial hyperostosis, Dental ... OMIM:269500
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Broad n... OMIM:300963
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus, Umbilical hernia, Congenital diaphragmatic hernia... OMIM:618454
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Aortic valve stenosis, Facial palsy, Spina bifida occulta, Coarctation... ORPHA:2780
Van Maldergem Syndrome 1
Wide anterior fontanel, Downturned corners of mouth, Tented upper lip vermilion, Irregular dentit... OMIM:601390
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:614114
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Anteverted nares, Malar flattening, Depressed nasal bridge OMIM:613038
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Ventricular septal defect, Coarctation of aorta, Pulmona... ORPHA:261494
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thin vermilion border, Short nose, Abnormal palate morphology, Deep philtrum, Thic... ORPHA:2701
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, High, narrow palate, Grayish enamel, Anodontia, Super... ORPHA:2980
Atrial Standstill
Abnormal heart morphology, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Left... ORPHA:1344
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Persistence of primary teeth, Wide nasal bridge, Selective tooth agene... OMIM:305620
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Hypokale... OMIM:615474
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Micrognathia OMIM:615419
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Short nose, Choanal atresia, Mi... ORPHA:1895
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Wide na... OMIM:616367
Autosomal Dominant Omodysplasia
Long philtrum, Short nose, Micrognathia, Malar flattening, Depressed nasal bridge ORPHA:93328
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia, Recurrent lower respiratory tract infections, Imp... OMIM:617258
Pierpont Syndrome
Thin vermilion border, Short nose, Everted lower lip vermilion, Long upper lip, Smooth philtrum, ... OMIM:602342
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Bulbous nose, Hypoplasia of the maxilla ORPHA:93945
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Short nose, Thin upper lip vermilion, High palate, Anteverted nares OMIM:300558
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Short nose, Wide nasal bridge, Broad philtrum, Micrognathia, Anteverted nares OMIM:618577
Mental Retardation, Autosomal Dominant 20
Short philtrum, Short nose, Downturned corners of mouth, Anteverted nares, Depressed nasal bridge OMIM:613443
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Mandibular prognathia, Intrauterine growth retardation, Malar flatt... OMIM:614613
Fibrochondrogenesis 2
Micrognathia, Malar flattening, Short nose, Anteverted nares OMIM:614524
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Low posterior hairline, Ventricular septal defect, Webbed neck, Patent duct... OMIM:617506
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Bainbridge-Ropers Syndrome
Short nose, Dental crowding, Everted lower lip vermilion, Wide mouth, Broad nasal tip, High palat... OMIM:615485
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Patent ductus arter... OMIM:613870
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short nose, Wide nose, Depressed nasal ridge ORPHA:2831
Teebi Hypertelorism Syndrome
Long philtrum, Short nose, Dental crowding, Natal tooth, Wide nasal bridge, Depressed nasal bridge OMIM:145420
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia OMIM:615879
Achondrogenesis Type 1B
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:93298
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal heart morphology, Joint contra... ORPHA:352490
Hamamy Syndrome
Long philtrum, Wide mouth, Smooth philtrum, Hypodontia, Wide nasal bridge, High palate, Dental ma... OMIM:611174
Hallermann-Streiff Syndrome
Prominent nasal bridge, Recurrent pneumonia, Thin vermilion border, Narrow palate, Narrow mouth, ... OMIM:234100
Spondylospinal Thoracic Dysostosis
Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla OMIM:601809
Megalencephaly
Short neck, Atrial septal defect ORPHA:2477
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Monosomy 13Q34
Infantile hypercalcemia, Pulmonic stenosis, Common atrium ORPHA:96168
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Hypoplastic left heart, Mitral stenosis, Coarctation of aorta OMIM:617260
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Oculoectodermal Syndrome
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Short neck, Hypertrophic ca... OMIM:600268
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Short nose, Anteverted nares, Short columella, Laryngomalac... ORPHA:171839
Momo Syndrome
Wide nasal base, Delayed eruption of teeth, Long philtrum, Taurodontia, Smooth philtrum, Thick up... ORPHA:2563
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Anteverted nares, Pneumonia, Protruding tongue, Sinusit... OMIM:242860
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnormality of the pulm... ORPHA:1926
Achondrogenesis Type 1A
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares ORPHA:93299
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Micrognathia, Short nose OMIM:615042
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, High palate, Depressed nasal ... OMIM:617752
Cherubism
Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impacted teeth, Den... OMIM:118400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation ... ORPHA:1692
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Short nose, Widely spaced teeth, Everted lower lip vermilion, Wide mouth, Smooth p... OMIM:615873
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy OMIM:226100
Hemifacial Microsomia
Hypoplasia of facial musculature, Branchial anomaly, Ventricular septal defect, Patent ductus art... OMIM:164210
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Short nose, Wide nasal b... OMIM:616894
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Microretrognathia, Wide nasal bridge, Oral cleft, An... OMIM:123450
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Ventricular ... ORPHA:290
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, Umbilical hernia, Broad neck, Coarctation... ORPHA:93932
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Deep philtrum, Wide mouth, Pneumonia, T... OMIM:300209
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Wide nasal br... OMIM:601224
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Short nose, Everted lower lip vermilion, Abnormality of the... ORPHA:1702
Acrodysostosis
Open bite, Delayed eruption of teeth, Short nose, Open mouth, Mandibular prognathia, Wide nasal b... ORPHA:950
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia, Exercise-induced rhabdomyolysis ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hypercalcemia, Hyperphosphatemia OMIM:617994
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Right ventricular dilatation ORPHA:99103
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Abnormality of the dentition, High palate, Micrognathia, Promine... ORPHA:776
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:608406
Pfeiffer Syndrome
Short nose, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Cartilagin... OMIM:101600
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypodontia, Depressed nasal bridge, Broad nasal... OMIM:101800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Webbed neck, Patent ductus arteriosus, Pulmonic stenosis, Double outlet rig... OMIM:618223
Acromicric Dysplasia
Long philtrum, Narrow mouth, Bulbous nose, Short nose, Thick lower lip vermilion, Anteverted nares ORPHA:969
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Bulbous nose, Short nose, Excessive salivation, Mandibular prognathia, Everted lowe... ORPHA:261144
Baker-Gordon Syndrome
Thin upper lip vermilion, Short nose, Smooth philtrum, Prominent nasal tip OMIM:618218
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Patent ductus a... OMIM:616867
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Oligodontia, Tooth malposition, Narrow mouth, Short nose, Abnormality of canine, Abno... ORPHA:363417
Structural Heart Defects And Renal Anomalies Syndrome