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Gene: Baz1b MGI:1353499

Gene Summary

Name:

bromodomain adjacent to zinc finger domain, 1B

Synonyms:

Wbscr9, WSTF

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating chloride level	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	1.58×10^-05
decreased circulating cholesterol level	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	2.03×10^-09
decreased circulating total protein level	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	5.63×10^-05
decreased circulating HDL cholesterol level	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	5.45×10^-07
abnormal startle reflex	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	5.10×10^-05
decreased body weight	Baz1b^{tm2a(KOMP)Wtsi}	HOM	Early adult	2.74×10^-11
decreased body weight	Baz1b^{tm2a(KOMP)Wtsi}	HET	Early adult	9.45×10^-07

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

Baz1b^{tm2a(KOMP)Wtsi}
body, HET, Female, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
head, HET, Female, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
WT, Male, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
body, WT, Male, WTSI

View all 285 images

Baz1b^{tm2a(KOMP)Wtsi}
upturned snout, short snout, HOM, Female, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
HET, Female, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
HET, Male, WTSI

Baz1b^{tm2a(KOMP)Wtsi}
tail skin, WT, Female, WTSI

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.

Human diseases associated with Baz1b (1 diseases)
Human diseases predicted to be associated with Baz1b (1645 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Williams Syndrome		Abnormal endocardium morphology, Abnormal circulating lipid concentration, Overriding aorta, Bicu...	ORPHA:904

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

Disease	Matching phenotypes	Source
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Right Ventricular Hypoplasia, Isolated	Hypoplasia of right ventricle	OMIM:277200
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
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	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Dental malocclusion	OMIM:155050
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement	OMIM:614022
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar ...	ORPHA:217340
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos...	OMIM:614669
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Anteverted nares, Dental malocclusion	OMIM:618292
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth, Underdeveloped nasal alae	OMIM:616108
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Mcdonough Syndrome	Mandibular prognathia, Underdeveloped nasal alae, Micrognathia, Prominent nose, Open bite, Dental...	ORPHA:2471
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation	ORPHA:422
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Myopathy, Abnormal circulating creatine kinase concentration, Limb-...	ORPHA:369840
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Rubinstein-Taybi Syndrome 2	Micrognathia, Prominent nose, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High...	OMIM:613684
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy	OMIM:619705
Noonan Syndrome 9	Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck	OMIM:616559
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Meacham Syndrome	Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right ...	OMIM:608978
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent ductus arteriosus, A...	ORPHA:1120
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose	OMIM:615541
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor...	ORPHA:563
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte...	ORPHA:261120
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Joint contracture of...	OMIM:179613
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Low posterior hairline, Hypoplastic lef...	OMIM:220210
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental...	ORPHA:1327
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Birk-Aharoni Syndrome	Muscular ventricular septal defect	OMIM:620071
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Adamantinoma	Hypercalcemia	ORPHA:55881
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h...	OMIM:619178
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Intention tremor	OMIM:610539
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Underdeveloped nasal alae, Diastema, Dental malocclusion, Malar flattening, Broad c...	ORPHA:436245
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Anterior open-bit...	OMIM:602483
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve...	ORPHA:1695
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ...	OMIM:618494
Combined Oxidative Phosphorylation Deficiency 20	Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Atrial Septal Defect, Sinus Venosus Type	Right ventricular dilatation, Stroke, Anomalous pulmonary venous return	ORPHA:99105
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Houge-Janssens Syndrome 3	Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect	OMIM:618354
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i...	OMIM:619719
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Shor...	OMIM:618804
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Dental maloc...	ORPHA:61
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Low ha...	OMIM:613680
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Increased c...	OMIM:601494
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneurysm, Atrial septa...	OMIM:620070
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double...	OMIM:618164
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent...	ORPHA:99104
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Transaldolase Deficiency	Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep...	OMIM:606003
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia	OMIM:300577
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Short neck, Increased nuchal translucency, Patent duc...	OMIM:616564
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Increase...	OMIM:605275
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypoproteinemia	OMIM:608093
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, U...	OMIM:257850
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Webbed neck, Atrial ...	OMIM:618316
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick...	OMIM:618506
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Micrognathia, Narrow mouth, Intrauterine growth retardation, Short nose, Abnormal palate morphology	ORPHA:1495
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Short nose, High palate, Micrognathia	ORPHA:2598
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Exaggerated cupid's bow, Narrow nasal ridg...	OMIM:619293
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Ventricular septal defect, Short neck, Patent ductus arterio...	OMIM:300514
Three M Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Dental malocclusion, High pa...	OMIM:612921
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Congenital Myopathy 11	Atrial septal defect, Weakness of facial musculature, Abnormal circulating creatine kinase concen...	OMIM:619967
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Larsen-Like Syndrome	Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent nasal bridge, Malar flattening	OMIM:608545
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth	OMIM:617507
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia...	OMIM:616331
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Open mouth, Dental malocclusion, Wide nasal bridge	OMIM:619149
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip	ORPHA:2776
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Dental malocclu...	OMIM:617883
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal circulating histidine concentration	ORPHA:51208
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro...	OMIM:619167
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Oligodontia,...	OMIM:618727
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ...	ORPHA:85321
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe...	ORPHA:2849
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth	OMIM:300143
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol...	OMIM:266510
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric...	OMIM:265380
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp...	OMIM:617744
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar...	ORPHA:99106
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Tau...	OMIM:157980
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum	ORPHA:1389
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi...	OMIM:613604
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri...	ORPHA:3079
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Dengue Fever	Hypoproteinemia	ORPHA:99828
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalize...	ORPHA:66634
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s...	OMIM:117550
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hyperammonemia, Elevated circulating suberic acid concentration, Elevat...	OMIM:615160
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration, Foot...	OMIM:615883
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Depressed nasal bridge, Dental malocclusion, High palate, Hypodontia, ...	OMIM:612350
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta, Low posterior hairline	OMIM:618929
Harrod Syndrome	Long nose, Dental malocclusion, High palate, Narrow mouth, Intrauterine growth retardation	ORPHA:2115
Omenn Syndrome	Failure to thrive, Hypoproteinemia	OMIM:603554
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy...	ORPHA:1166
Alg9-Cdg	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Hypoplasia of the musculature...	ORPHA:79328
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:615279
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C...	OMIM:264480
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open...	OMIM:617877
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T...	OMIM:249620
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi...	ORPHA:763
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Lon...	OMIM:613544
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down...	OMIM:617752
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Webbed neck, Muscular ventricular septal defect, Spina bifida occulta, Low posterior hairline	OMIM:619227
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial se...	OMIM:618652
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot	ORPHA:217
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S...	OMIM:619356
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Intrauterine growth retardation...	OMIM:615419
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose	ORPHA:329178
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti...	ORPHA:96147
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Micrognathia	ORPHA:1514
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Johanson-Blizzard Syndrome	Failure to thrive, Hypoproteinemia	ORPHA:2315
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea	OMIM:607765
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Long philtrum...	ORPHA:261295
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Monosomy 13Q34	Common atrium, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C...	ORPHA:1708
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum...	OMIM:617991
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root ane...	OMIM:617602
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Zimmermann-Laband Syndrome	Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, Cleft palate, ...	ORPHA:3473
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Abnormal ...	ORPHA:1716
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest...	OMIM:618156
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta...	OMIM:136760
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Short nose, Thin vermilion border, Narrow mouth	ORPHA:2370
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Prominent nose, Dental malocclusion, Cle...	OMIM:210600
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus	ORPHA:2516
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Pierpont Syndrome	Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin vermilion border...	OMIM:602342
Noonan Syndrome 8	Ventricular septal defect, Short neck, Patent ductus arteriosus, Pulmonic stenosis, Webbed neck, ...	OMIM:615355
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum	OMIM:618577
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:300887
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Acrootoocular Syndrome	Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Short nose, Retrognathia, Dentinogenesis imper...	ORPHA:166272
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Microgna...	ORPHA:251028
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Intermediate Osteopetrosis	Abnormal dental morphology, Dental malocclusion, Osteosclerosis of the base of the skull, Abnorma...	ORPHA:210110
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge	OMIM:615560
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Lowry-Maclean Syndrome	Atrioventricular canal defect, Congenital diaphragmatic hernia, Delayed eruption of primary teeth...	ORPHA:2409
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Muenke Syndrome	Malar flattening, High palate, Dental malocclusion	OMIM:602849
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Short Syndrome	Delayed eruption of teeth, Micrognathia, Underdeveloped nasal alae, Dental malocclusion, Wide nas...	OMIM:269880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Kabuki Syndrome 2	Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana...	OMIM:300867
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,...	ORPHA:2701
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge, Intrauterine growth...	ORPHA:2145
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Broad neck, Ventricular septal defect, Short neck, Patent ductus arteriosus, Hypoplastic aortic a...	OMIM:617506
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord...	ORPHA:1895
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ...	OMIM:601224
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve morphology...	ORPHA:99103
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Kleefstra Syndrome	Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery ste...	ORPHA:261494
Alg3-Cdg	Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Neural tube defect, Arth...	ORPHA:79321
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an...	OMIM:601390
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of a...	OMIM:614921
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose	ORPHA:93328
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Facial palsy, Coarctation of aorta, Aortic valve stenosis, Spina bifid...	ORPHA:2780
Acromicric Dysplasia	Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum	ORPHA:969
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Short nose, High palate, Micrognathia	OMIM:615042
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup...	OMIM:211380
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Achondrogenesis	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:932
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
17P13.3 Microduplication Syndrome	Wide nose, High palate, Short nose, Narrow mouth	ORPHA:217385
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
Sclerosteosis 1	Mandibular prognathia, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, Facial pal...	OMIM:269500
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Malar flattening, Short nose, In...	OMIM:614613
Myopathy, Myofibrillar, 8	High palate, Dental malocclusion, Micrognathia	OMIM:617258
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Non-Distal Duplication 13Q	Micrognathia, Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip...	ORPHA:1702
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Hypophosphatasia	Hypercalcemia	ORPHA:436
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Short columella, Thin vermilion border, L...	ORPHA:171839
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Elevated circulating creatine kinase concentration, Myopathy, Shoulder girdle muscle weakness, Ge...	OMIM:615156
Toriello-Carey Syndrome	Short neck, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac sept...	ORPHA:3338
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia...	OMIM:615546
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Intrinsic hand muscle atrophy	OMIM:618569
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas...	OMIM:209885
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Alg12-Cdg	Muscular ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Biventricul...	ORPHA:79324
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis...	ORPHA:1926
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Broad nasal tip, Hypoplasia of the maxilla, Wide nasal bridg...	OMIM:620157
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Increased nu...	ORPHA:1692
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ...	ORPHA:391372
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Fg Syndrome Type 1	Progressive flexion contractures, Coarctation of aorta, Mitral valve prolapse, Atrial septal defe...	ORPHA:93932
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge	OMIM:300676
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum	OMIM:618218
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Arth...	OMIM:301056
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening	OMIM:241310
Megalencephaly	Atrial septal defect, Short neck	ORPHA:2477
Down Syndrome	Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Complete atrioventric...	OMIM:190685
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Verheij Syndrome	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Wide nasal bridge, Cleft palate, Lon...	OMIM:615583
Cri-Du-Chat Syndrome	Microretrognathia, Thick lower lip vermilion, Wide nasal bridge, Orofacial cleft, Anterior open-b...	OMIM:123450
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se...	ORPHA:352490
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Dental malocclusion, Wide nasa...	OMIM:616894
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over...	OMIM:619142
Hamamy Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge,...	OMIM:611174
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal...	ORPHA:364577
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Opitz Gbbb Syndrome	Natal tooth, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus...	ORPHA:2745
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Bulbous nose, Flared nostrils, Dental malocclusion, Wide nasal bridge, ...	OMIM:616737
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:776
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop...	ORPHA:950
Achondrogenesis Type 1B	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:93298
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Sh...	OMIM:620250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Periventricular Nodular Heterotopia 7	Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Pierre-Robin sequence, Cleft ...	OMIM:617201
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ...	ORPHA:1458
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad...	OMIM:101800
Miller-Dieker Syndrome	Abnormal upper lip morphology, Short nose, Anteverted nares	ORPHA:531
Oculoectodermal Syndrome	Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep...	OMIM:600268
Fibrochondrogenesis 2	Malar flattening, Short nose, Anteverted nares, Micrognathia	OMIM:614524
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid...	ORPHA:2662
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi...	ORPHA:1915
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Micrognathia	ORPHA:2547
Pallister-Hall-Like Syndrome	Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglossia, Short nose	OMIM:241800
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Micrognathia	OMIM:608257
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro...	ORPHA:167
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose	OMIM:614078
Achondrogenesis Type 1A	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:93299
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, M...	OMIM:615668
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Cleft palate, Dow...	ORPHA:163649
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Hypercalcemia	ORPHA:476126
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,...	ORPHA:17
Phelan-Mcdermid Syndrome	Micrognathia, Bulbous nose, Dental malocclusion, Wide nasal bridge, Concave nasal ridge, High pal...	OMIM:606232
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ...	OMIM:613443
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Atrial septal ...	OMIM:619769
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic...	OMIM:300558
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo...	ORPHA:261144
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ...	ORPHA:290
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Micrognathia	OMIM:617183
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Intrauterine growth retardation,...	ORPHA:163966
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Axenfeld-Rieger Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion...	ORPHA:782
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglossi...	OMIM:242860
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Martin-Probst Syndrome	Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Wide mouth, Mala...	OMIM:300519
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive...	ORPHA:369837
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal...	OMIM:227330
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck	ORPHA:2001
Aarskog-Scott Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Abnormal...	ORPHA:915
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri...	OMIM:603387
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Micrognathia, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Thin...	OMIM:613026
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m...	ORPHA:439822
Robinow Syndrome	Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Micrognathia, Persist...	ORPHA:97360
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Micrognathia, Hypoplasia of teeth, Downtur...	ORPHA:391408
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Limb hypertonia	OMIM:301058
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Myopathy, Centronuclear, X-Linked	High palate, Dental malocclusion	OMIM:310400
Acrocephalopolydactyly	Short nose, Depressed nasal ridge	ORPHA:221054
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,...	ORPHA:79113
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver...	ORPHA:1699
Peho Syndrome	Tented upper lip vermilion, Short nose, Retrognathia, Open mouth	OMIM:260565
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Open bite, Abnormality of the dentition, ...	OMIM:115150
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding,...	OMIM:145420
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4t...	OMIM:618223
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular dilatation, Increased HDL cholesterol concentration, Elevated circulating C-rea...	ORPHA:70591
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Increased nuchal translucency, Coarctation of aorta, Abnormal aortic morphology...	ORPHA:1052
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Intrauterine growth retardation,...	ORPHA:2083
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Carious teeth, Wide anterior fontanel, Intrauterine growth retardation, High pa...	OMIM:219200
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors	ORPHA:397973
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation...	OMIM:618454
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo...	OMIM:616580
Hallermann-Streiff Syndrome	Natal tooth, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Underdeveloped nasal...	OMIM:234100
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester...	ORPHA:96180
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Short neck, Spina bifida, F...	ORPHA:508498
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Prominent nasal bridge	ORPHA:85279
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Acrofacial Dysostosis, Catania Type	Microretrognathia, Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Tooth...	ORPHA:1786
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corner...	ORPHA:369891
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge...	OMIM:612422
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,...	ORPHA:1295
Oculoskeletodental Syndrome	Macroglossia, Hypercalcemia, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
X-Linked Intellectual Disability, Nascimento Type	Broad neck, Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, L...	ORPHA:163956
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion	OMIM:608940
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arte...	OMIM:121050
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Bone Dysplasia, Lethal Holmgren Type	Redundant neck skin, Short neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic car...	ORPHA:1842
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Malar flatte...	ORPHA:485405
Noonan Syndrome 4	Wide mouth, Thick vermilion border, Depressed nasal bridge, Dental malocclusion	OMIM:610733
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Noncompaction cardiomyopathy, Diaphragmatic eventration, Dilated cardiomyop...	OMIM:610198
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge, Alveolar ridge overgrowth...	ORPHA:444072
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Micrognathia, Bulbous nose, Wi...	OMIM:617061
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Short nose	ORPHA:93329
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Short nose, Depressed nasal bridge	OMIM:616910
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat...	OMIM:603457
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Intrauterine growth reta...	ORPHA:1914
Toluene Embryopathy	Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum	ORPHA:1920
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Short neck, Muscular ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612474
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,...	OMIM:618529
X-Linked Mandibulofacial Dysostosis	Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology, Abnormality ...	ORPHA:1131
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic...	OMIM:301022
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Abnormal palate...	ORPHA:93262
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly	OMIM:301039
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Left ventricular hypertrophy, ...	OMIM:615474
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Pterygium Colli, Isolated	Short nose	OMIM:177990
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia	OMIM:156400
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus...	ORPHA:90308
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Short neck, Muscular ve...	OMIM:210710
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Trigonocephaly 1	High, narrow palate, Short nose, Wide nasal bridge, Long philtrum	OMIM:190440
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac...	OMIM:616866
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Situs inversus totalis	OMIM:619881
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Wide nasal bridge, Orofacial cleft, ...	OMIM:243310
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Coarctation of aorta, Camp...	OMIM:616145
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat...	OMIM:610015
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos...	OMIM:616420
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Wide anterior fontanel, Thin vermilion border, High palate, Malar flattening, S...	OMIM:601853
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n...	ORPHA:178303
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Prominent nasal bridge, Prominent nose, Dental malocclusion, Bifid uvula, High palate,...	OMIM:601552
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect	ORPHA:93946
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge	OMIM:218000
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Short philtrum, Everted lowe...	OMIM:601499
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Oliver Syndrome	Mandibular prognathia, Dental malocclusion, High palate, Short philtrum, Intrauterine growth reta...	ORPHA:2920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Pulmonary artery stenosis,...	ORPHA:251071
Faciocardiomelic Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Wide mouth, Long phi...	OMIM:612731
Cadds	Intrauterine growth retardation, Short nose, Micrognathia	ORPHA:369942
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Short philtrum, Open mouth	ORPHA:228384
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Umbilical hernia	ORPHA:1035
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale, Short neck	OMIM:616854
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath...	ORPHA:561
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Progeria-Short Stature-Pigmented Nevi Syndrome	Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodontia, Bifid uvula, Fragile teeth	ORPHA:2959
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Dysostosis, Stanescu Type	Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal na...	ORPHA:1798
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Low posterior hairl...	OMIM:300963
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,...	OMIM:618975
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Dental maloccl...	OMIM:182212
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose	ORPHA:1234
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Short neck, Abnormal heart morphology, Coarctat...	ORPHA:124
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Depressed nasal bridge, Micrognathia	OMIM:617802
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg...	ORPHA:261211
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect	OMIM:611134
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp...	OMIM:241200
Myhre Syndrome	Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize...	OMIM:139210
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Flexion contracture, Patent foramen ovale, Camptodactyly	ORPHA:88630
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela...	ORPHA:819
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta	ORPHA:2475
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat...	ORPHA:1335
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Tetrasomy 18P	Narrow mouth, Short nose, Thin vermilion border, Long philtrum	ORPHA:3307
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly	OMIM:614846
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola...	OMIM:249420
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries, Short neck	OMIM:616789
Noonan Syndrome 1	Ventricular septal defect, Short neck, Patent ductus arteriosus, Low posterior hairline, Coarctat...	OMIM:163950
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short neck, Coarctation of aorta, Small thenar emi...	OMIM:105650
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypoplastic left heart, Coarctation of aorta	OMIM:277170
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Abnormal tricuspid valve...	ORPHA:7
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil...	ORPHA:228396
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterio...	OMIM:618870
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Underdeveloped nasal alae, Cleft upper lip, Wi...	ORPHA:894
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Patent ductus arteriosus, Co...	OMIM:274000
Localized Scleroderma	Abnormality of the dentition, Abnormality of the nose, Dental malocclusion, Abnormal facial skele...	ORPHA:90289
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Long philtrum, Short nose	ORPHA:1988
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot	ORPHA:1381
Noonan Syndrome 5	Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:611553
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Ia	Tremor, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Intention tremor	OMIM:212065
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Thick lower lip vermilion, Dental malocclusio...	OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Hypocalcemia, Left ventricular hypertrophy, Lo...	ORPHA:746
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downt...	OMIM:618571
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals...	OMIM:619480
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect	ORPHA:2519
Thanatophoric Dysplasia Type 2	Atrial septal defect, Increased nuchal translucency, Encephalocele, Patent ductus arteriosus	ORPHA:93274
Combined Oxidative Phosphorylation Deficiency 9	Hyperalaninemia, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Flexion contracture, Defective DNA rep...	OMIM:278760
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ...	OMIM:614105
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss	ORPHA:29073
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,...	ORPHA:1790
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious teeth, Coni...	OMIM:129400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Short nose, Micrognathia	ORPHA:496790
Snijders Blok-Campeau Syndrome	Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck	OMIM:618950
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Mandibular osteolysis, Thi...	OMIM:614008
Emanuel Syndrome	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Truncus arteriosus, Delayed e...	OMIM:609029
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b...	OMIM:106260
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Bulbous nose, Flared nostrils, Dental maloc...	ORPHA:487796
Jacobsen Syndrome	Ventricular septal defect, Spina bifida, Short neck, Coarctation of aorta, Hypoplastic left heart...	ORPHA:2308
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose	OMIM:618437
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short neck, Atrial septal defect, Patent foramen ovale, Chromosomal br...	OMIM:609053
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under...	OMIM:615485
Mohr Syndrome	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Bifid nasal tip,...	OMIM:252100
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale, Short neck	OMIM:618821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f...	OMIM:253800
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri...	OMIM:616028
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale	ORPHA:89844
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p...	OMIM:619833
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal...	ORPHA:363659
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Mitral atresia, Ascending ...	OMIM:619503
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Dental...	OMIM:101200
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, W...	OMIM:618371
Nager Syndrome	Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft ...	ORPHA:245
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle...	OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr...	OMIM:156200
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Stevenson-Carey Syndrome	Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary...	OMIM:611961
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, R...	ORPHA:293939
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Recurrent sinusit...	OMIM:604173
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Raine Syndrome	Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Microd...	OMIM:259775
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Open mouth, Wide anterior fontanel, Wide mouth,...	OMIM:616638
Thanatophoric Dysplasia	Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus	ORPHA:2655
Noonan Syndrome 7	Short neck, Low posterior hairline, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertr...	OMIM:613706
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ...	ORPHA:83
Distal Duplication 5Q	Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Short n...	ORPHA:96097
Atelosteogenesis, Type Iii	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening	OMIM:108721
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Intrauterine growth retardation	OMIM:608154
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa...	ORPHA:1358
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal defect, Umbilical ...	OMIM:612582
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery stenosis, Webbed neck, Con...	OMIM:280000
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:600901
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Patent ductus arteriosus, Low pos...	OMIM:244300
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Cohen Syndrome	Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt...	OMIM:216550
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ...	ORPHA:352665
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, High palate, ...	ORPHA:1307
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal...	ORPHA:353281
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Submucous cleft hard pa...	OMIM:614701
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Intrauteri...	OMIM:616897
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Meckel Syndrome, Type 7	Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri...	OMIM:267010
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose, Smooth philtrum	OMIM:618828
Hardikar Syndrome	Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P...	OMIM:301068
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis	ORPHA:60041
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ventricular septal defect, Short neck, Complete atrioventricular canal defect, Pa...	ORPHA:508488
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cario...	OMIM:164200
Crouzon Syndrome	Hypoplasia of the maxilla, Convex nasal ridge, Choanal atresia, Narrow palate	ORPHA:207
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu...	OMIM:305400
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose	OMIM:615539
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Hypoplasia of teeth, ...	OMIM:608612
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,...	OMIM:314390
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Facial hypotonia	OMIM:611087
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Intrauterine growth retardation, Concave nasal ridge, ...	OMIM:251450
Meckel Syndrome, Type 8	Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip	OMIM:613885
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Broad nasal tip, Diastema, Dental...	ORPHA:96121
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S...	OMIM:610536
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Arthrogryposis mu...	OMIM:208085
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim...	OMIM:620327
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, High palate...	OMIM:619383
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pulmon...	OMIM:608149
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Prominent nose, Abnormality of the dent...	ORPHA:363528
Marshall Syndrome	Thick upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal...	OMIM:154780
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Flexion contracture, Mitral va...	OMIM:180849
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227650
Coffin-Siris Syndrome 6	Atrial septal defect, Diaphragmatic eventration	OMIM:617808
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Depressed nasal bridge, Antevert...	ORPHA:192
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat...	OMIM:206920
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck	ORPHA:2328
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st...	OMIM:617660
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	ORPHA:14
Tetrasomy 5P	Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, High palate, Long phil...	ORPHA:3309
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st...	ORPHA:96167
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina...	ORPHA:1908
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H...	OMIM:170390
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect, Short neck	OMIM:617452
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:615879
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Coni...	ORPHA:73223
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Dental malocclusion, High pala...	OMIM:102500
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag...	OMIM:616777
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appeara...	OMIM:193700
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Carpenter Syndrome 1	Ventricular septal defect, Short neck, Persistence of primary teeth, Patent ductus arteriosus, Sp...	OMIM:201000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de...	OMIM:220500
Meckel Syndrome, Type 1	Occipital encephalocele, Natal tooth, Camptodactyly of finger, Short neck, Large placenta, Patent...	OMIM:249000
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Everted lowe...	OMIM:608013
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Flexion contracture, Ventricular septa...	OMIM:227645
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Neonatal death, Shor...	OMIM:619859
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Micro Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Intrauterine grow...	ORPHA:2510
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygoma...	ORPHA:1812
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Pierre-Robin sequ...	OMIM:217980
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge	ORPHA:2143
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,...	OMIM:608156
Wrinkly Skin Syndrome	Delayed eruption of teeth, Scapular winging, Hypoplasia of the musculature, Muscular ventricular ...	OMIM:278250
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt...	OMIM:618430
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flatten...	ORPHA:3258
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections, Micrognathia	ORPHA:3078
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Intrauterine growth...	ORPHA:1912
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,...	OMIM:300166
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Dental crowd...	OMIM:614188
Ruvalcaba Syndrome	Dental crowding, Thin vermilion border, Narrow mouth, Intrauterine growth retardation, Short nose...	ORPHA:3121
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Webbed neck, Pulmonic...	OMIM:609942
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl...	ORPHA:261311
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Cystic hygroma, Ventricular septal defect	ORPHA:3378
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone	OMIM:118650
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, High palate, Intrauterine growth retardation, Short nose, Retrognathia	OMIM:618005
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Kabuki Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:2322
Hypotonia-Cystinuria Syndrome	Facial palsy, Ragged-red muscle fibers, Hypocalcemia	OMIM:606407
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect	OMIM:611926
Waardenburg Syndrome Type 3	Atrial septal defect, Camptodactyly of finger	ORPHA:896
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Cockayne Syndrome A	Mandibular prognathia, Slender nose, Delayed eruption of primary teeth, Prominent nose, Carious t...	OMIM:216400
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect, Short neck	ORPHA:505237
Schwartz-Jampel Syndrome	Pursed lips, Prominent nasal bridge, Micrognathia, Trismus, Supernumerary tooth, Dental malocclus...	ORPHA:800
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ...	OMIM:618914
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph...	ORPHA:357074
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Thickened nuchal skin fold, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctat...	OMIM:220111
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac...	OMIM:311300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Transposition of the grea...	ORPHA:1780
Familial Isolated Hypoparathyroidism	Myopathy, Hypocalcemia	ORPHA:2238
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Emanuel Syndrome	Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Mu...	ORPHA:96170
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:617088
Oculodentodigital Dysplasia	Narrow nasal bridge, Mandibular prognathia, Median cleft lip, Anteverted nares, Abnormal dental e...	ORPHA:2710
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Congenital Disorder Of Glycosylation, Type Il	Wide mouth, Short nose, Depressed nasal bridge, Long philtrum	OMIM:608776
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Cleft palate, Stillbirth, Narro...	OMIM:228520
Turner Syndrome Due To Structural X Chromosome Anomalies	Thickened nuchal skin fold, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Aor...	ORPHA:99413
Mosaic Monosomy X	Thickened nuchal skin fold, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Aor...	ORPHA:99228
Monosomy X	Thickened nuchal skin fold, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Aor...	ORPHA:99226
Turner Syndrome	Thickened nuchal skin fold, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Aor...	ORPHA:881
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Aortic root aneurysm	ORPHA:404443
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,...	ORPHA:177907
Autosomal Dominant Cutis Laxa	Redundant neck skin, Dilatation of the ventricular cavity, Coarctation of aorta, Peripheral pulmo...	ORPHA:90348
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Ig	Patent foramen ovale, Hypocalcemia	OMIM:607143
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Increased nuchal translucency, Varicose veins	OMIM:617300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo...	OMIM:618590
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted...	ORPHA:93357
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Prominent nasal bridge, Delayed eruption of primary teeth, C...	OMIM:133540
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Facial hypotonia	OMIM:614526
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Pulmonic stenosis	OMIM:618282
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec...	ORPHA:230851
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Wide nasal bridge, Short columella, Hypoplasia of the z...	OMIM:613603
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Intrauterine growth re...	OMIM:608022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal...	ORPHA:353277
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, ...	OMIM:601808
C Syndrome	Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide mouth, High pala...	OMIM:211750
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High palate, Narrow...	OMIM:265000
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea...	OMIM:313850
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Coarctation of aorta, Low posterior hairline, Webbed neck, Muscle hypertro...	ORPHA:1772
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a...	ORPHA:2331
Fraser Syndrome 1	Wide nose, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Cl...	OMIM:219000
Floating-Harbor Syndrome	Short neck, Low posterior hairline, Coarctation of aorta, Atrial septal defect, Umbilical hernia,...	OMIM:136140
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ...	OMIM:618109
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck	OMIM:270450
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Rhombencephalosynapsis	Microretrognathia, Short nose, Anteverted nares, Narrow mouth	ORPHA:59315
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate, Long philt...	OMIM:300749
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum	ORPHA:2983
Joubert Syndrome 3	Atrial septal defect	OMIM:608629
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Pr...	OMIM:301040
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Down Syndrome	Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio...	ORPHA:870
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Hyponatremia	OMIM:608688
Schimmelpenning-Feuerstein-Mims Syndrome	Coarctation of aorta	OMIM:163200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia...	OMIM:300534
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Desmosterolosis	Depressed nasal bridge, Micrognathia, Abnormality of the nose, Submucous cleft hard palate, Cleft...	ORPHA:35107
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology...	ORPHA:314588
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Short nose	OMIM:613320
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Flexion contracture, Low posterior hairl...	OMIM:619720
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
17Q11 Microdeletion Syndrome	Cerebral artery stenosis, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Abnormal...	ORPHA:97685
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Abnormal hemid...	ORPHA:2257
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Short neck, Spina bifid...	ORPHA:99776
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Mccune-Albright Syndrome	Nasal congestion, Dental malocclusion, Abnormal facial skeleton morphology	ORPHA:562
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na...	ORPHA:357001
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b...	OMIM:247200
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale	OMIM:620075
Floating-Harbor Syndrome	Persistence of primary teeth, Short neck, Tetralogy of Fallot, Coarctation of aorta, Atrial septa...	ORPHA:2044
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Thin vermilion border, High palate, Lo...	ORPHA:481152
Peho Syndrome	Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Malar flattenin...	ORPHA:2836
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Defective DNA repair after ultraviolet ra...	ORPHA:33364
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Wide anterior fontanel, Supernumerary tooth, Delayed eruption of prima...	OMIM:620099
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Deviated nasal se...	OMIM:123500
Brachytelephalangic Chondrodysplasia Punctata	Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o...	ORPHA:79345
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Short nose, Depressed nasal ridge	OMIM:300863
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig...	ORPHA:1974
Warburg Micro Syndrome 3	Downturned corners of mouth, Short nose, Narrow palate, Micrognathia	OMIM:614222
Galloway-Mowat Syndrome 3	Camptodactyly, Coarctation of aorta	OMIM:617729
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Chromosomal ...	OMIM:227646
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Malar flattening, Short nose	OMIM:222448
Schneckenbecken Dysplasia	Malar flattening, Short nose, Stillbirth, Cleft palate	OMIM:269250
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border	ORPHA:1185
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Protruding tongue, Thick vermilion border, Narrow mouth, Intrauterine gr...	OMIM:608779
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph...	OMIM:616430
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Intrauterine gr...	OMIM:613804
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hyp...	ORPHA:861
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Lathosterolosis	Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H...	ORPHA:46059
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera...	OMIM:610828
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Hypocalcemia	OMIM:300712
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Short nose	OMIM:617822
Pheochromocytoma	Hypercalcemia	OMIM:171300
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate...	OMIM:615803
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai...	ORPHA:90794
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m...	ORPHA:261197
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:270400
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Cohen Syndrome	Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia o...	ORPHA:193
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned...	OMIM:615398
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Sh...	OMIM:612394
19P13.12 Microdeletion Syndrome	Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Short neck	ORPHA:254346
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Primum atrial septal defect	OMIM:615272
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Wide anterior fontan...	OMIM:230740
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Cleft palate, High palate, Narrow mout...	ORPHA:1225
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia	OMIM:192430
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia	OMIM:617190
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop...	OMIM:100300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Hypodontia	ORPHA:544503
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa...	OMIM:158170
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zy...	OMIM:616462
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Triangular mouth, Cleft palate...	OMIM:257300
Al Kaissi Syndrome	Atrial septal defect, Torticollis	OMIM:617694
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:90154
Williams Syndrome	Abnormal endocardium morphology, Abnormal circulating lipid concentration, Overriding aorta, Bicu...	ORPHA:904
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Low posterior hairline, Camptodactyly, Atrial sep...	OMIM:617360
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate...	ORPHA:2282
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,...	OMIM:605627
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Albers-Schönberg Osteopetrosis	Facial palsy, Hypocalcemia	ORPHA:53
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,...	OMIM:619179
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormality of the dentition, Ol...	ORPHA:2095
Carpenter Syndrome 2	Depressed nasal bridge, Anteverted nares, Carious teeth, High, narrow palate, Dental malocclusion...	OMIM:614976
Thanatophoric Dysplasia Type 1	Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus	ORPHA:1860
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Monosomy 22Q13.3	Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Malar flattening	ORPHA:48652
Alagille Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Peripheral pulmonary arter...	ORPHA:52
Trisomy 20P	Anteverted nares, Micrognathia, Abnormality of the dentition, Downturned corners of mouth, Abnorm...	ORPHA:261318
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis, Camptodactyly	ORPHA:459061
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Wide mouth, Long philtrum, Intrauter...	ORPHA:251061
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Elbow flexion c...	OMIM:245600
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan...	OMIM:166250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Alveolar ridge overgrowth, Cleft palate...	OMIM:602398
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti...	OMIM:601088
Ctcf-Related Neurodevelopmental Disorder	Atrial septal defect, Patent ductus arteriosus, Joint contracture of the 5th finger, Coarctation ...	ORPHA:363611
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Fraser Syndrome	Cleft ala nasi, Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Cleft upper l...	ORPHA:2052
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose	ORPHA:93259
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D...	OMIM:268310
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Noonan Syndrome 13	Short neck, Low posterior hairline, Mitral valve prolapse, Webbed neck, Atrial septal defect	OMIM:619087
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose	ORPHA:1642
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe...	ORPHA:391665
Distal Deletion 10Q	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Prominent nose, Wide nasal bridge...	ORPHA:96148
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology	ORPHA:1292
Bdv Syndrome	Atrial septal defect	OMIM:619326
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Mi...	ORPHA:1507
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge, Oligodontia, ...	OMIM:609460
Loeys-Dietz Syndrome 5	Decreased muscle mass, Scapular winging, Ventricular septal defect, Aortic root aneurysm, Ascendi...	OMIM:615582
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Preductal coarctation of the ao...	OMIM:146510
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology	ORPHA:2237
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Thin verm...	OMIM:616007
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Increased nuchal translucency	OMIM:620183
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, H...	OMIM:620369
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Patent foramen ovale	OMIM:614868
Mucopolysaccharidosis-Plus Syndrome	Short neck, Patent ductus arteriosus, Flexion contracture, Low posterior hairline, Macroglossia, ...	OMIM:617303
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Neonatal death	OMIM:311900
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmatic hernia, Pulmonary ar...	OMIM:208050
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hypercalcemia, Flexion contracture, Mitral valv...	OMIM:194050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Short neck, Patent ductus arteriosus, Low posterior hairline, Webbed neck, Atri...	OMIM:609625
Blomstrand Lethal Chondrodysplasia	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Long phil...	ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho...	OMIM:616723
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Thin vermilion border, High...	OMIM:614080
Autosomal Dominant Robinow Syndrome	Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Micrognathia, O...	ORPHA:3107
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br...	ORPHA:1465
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth	OMIM:613735
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Supernume...	OMIM:268400
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed...	OMIM:616835
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:617397
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae	ORPHA:2031
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Juvenile Polyposis Syndrome	Failure to thrive, Hypoproteinemia	ORPHA:2929
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg...	ORPHA:666
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Bacterial Toxic-Shock Syndrome	Myositis, Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating c...	ORPHA:36234
Fryns Syndrome	Thickened nuchal skin fold, Congenital diaphragmatic hernia, Short neck, Abnormal aortic arch mor...	ORPHA:2059
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy...	ORPHA:306542
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Macroglossia, Patent ductus arteriosus, Camptodactyly	ORPHA:397709
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Trun...	ORPHA:261330
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala...	ORPHA:65286
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis	ORPHA:436003
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Micrognathia, Hypoplastic frontal sinuses, Pierre-Robin sequence, Cleft p...	ORPHA:90652
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Wide nose, Recurrent upper respiratory tract infections, Depressed nas...	ORPHA:2399
Orofaciodigital Syndrome Type 4	Wide nose, Median cleft lip, Choanal atresia, Abnormal oral mucosa morphology, Micrognathia, High...	ORPHA:2753
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Webbed ...	OMIM:153400
1P21.3 Microdeletion Syndrome	Wide mouth, Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmat...	ORPHA:2260
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu...	OMIM:271510
Martsolf Syndrome 1	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, High palate, Sh...	OMIM:212720
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef...	ORPHA:261236
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Pulmonic ...	OMIM:610759
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality of the nose, Orofacial cleft,...	ORPHA:171929
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Cerebrofacioarticular Syndrome	Irregular dentition, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla,...	ORPHA:314679
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death	OMIM:620244
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive	OMIM:616881
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Low posterior hairline, Pulmo...	OMIM:615802
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Congenital contracture	ORPHA:261279
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ...	OMIM:214800
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Pseudo-Torch Syndrome 1	Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale	OMIM:251290
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,...	OMIM:613457
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal ar...	ORPHA:672
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis	OMIM:202650
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Short nose	OMIM:614207
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasal groove, Bifid...	ORPHA:391474
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:619648
Wiedemann-Steiner Syndrome	Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct...	OMIM:605130
Lethal Kniest-Like Dysplasia	Atrial septal defect, Short neck	ORPHA:2347
Fanconi Anemia, Complementation Group F	Atrial septal defect, Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents	OMIM:603467
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cleft lip, Cleft palate, Prominent nasolabial fold, ...	ORPHA:2953
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Micrognathia, Hypoplasia of t...	OMIM:600920
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Macrocephaly/Autism Syndrome	High palate, Short nose, Depressed nasal bridge, Long philtrum	OMIM:605309
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	OMIM:617527
Dend Syndrome	Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum	ORPHA:79134
Duane-Radial Ray Syndrome	Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec...	OMIM:607323
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Ankle flexion contracture, Pulmonary artery stenosis, Knee flexion contracture, C...	ORPHA:435938
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	ORPHA:521426
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:84064
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P...	OMIM:300707
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal...	OMIM:213980
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl...	OMIM:301044
Atelosteogenesis, Type I	Depressed nasal bridge, Micrognathia, Cleft palate, Stillbirth, Neonatal death, Malar flattening,...	OMIM:108720
Ellis-Van Creveld Syndrome	Atrial septal defect, Natal tooth, Common atrium, Delayed eruption of teeth	OMIM:225500
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl...	ORPHA:828
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,...	ORPHA:209905
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Branchioskeletogenital Syndrome	Mandibular prognathia, Depressed nasal bridge, Unilateral cleft palate, Broad nasal tip, Hypoplas...	ORPHA:1299
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate,...	ORPHA:1449
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Atrial s...	OMIM:616364
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Open bite, Narrow pala...	ORPHA:794
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S...	OMIM:601353
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Proximal amyotrophy	ORPHA:653
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Wide nasal bridge, Th...	OMIM:617157
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, H...	ORPHA:94093
Arterial Tortuosity Syndrome	Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an...	ORPHA:3342
Pagod Syndrome	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Situs inversus totalis, Meningocele...	ORPHA:991
Stuve-Wiedemann Syndrome 1	Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue,...	OMIM:601559
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Hypocalcemia, Facial paralysis	OMIM:259700
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert...	OMIM:613458
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615108
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Knee flexion contracture, Atrial septal defect, Arthr...	ORPHA:85201
Pfeiffer Syndrome Type 1	High palate, Short nose, Depressed nasal bridge	ORPHA:93258
Sanjad-Sakati Syndrome	Myopathy, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
Sotos Syndrome	Hip contracture, Ventricular septal defect, Hypercalcemia, Ankle flexion contracture, Bilateral c...	ORPHA:821
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe...	OMIM:301030
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
Trichothiodystrophy 1, Photosensitive	Short nose, Retrognathia, Triangular mouth	OMIM:601675
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormality of the denti...	ORPHA:261112
Nicolaides-Baraitser Syndrome	Umbilical hernia, Coarctation of aorta, Low posterior hairline	OMIM:601358
Focal Dermal Hypoplasia	Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Broad nasal tip, Cleft upper lip,...	OMIM:305600
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Ppoma	Hypercalcemia	ORPHA:97278
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge, Triangular mouth	OMIM:617988
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Macroglossi...	ORPHA:505248
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Gingival overgro...	ORPHA:508533
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Mogs-Cdg	Atrial septal defect, Left ventricular hypertrophy, Cardiomegaly	ORPHA:79330
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Patent ductus arteriosus, Elbow contracture, Knee flexion contracture	OMIM:618162
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial septal defect, Aortic va...	OMIM:208540
Kleefstra Syndrome 1	Macroglossia, Natal tooth, Conotruncal defect, Persistence of primary teeth	OMIM:610253
Cartilage-Hair Hypoplasia	Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia, Aplasia/Hypoplasia of the abdom...	ORPHA:175
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, narrow palate, ...	OMIM:615873
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
3Mc Syndrome 1	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Atrial septal defect, Spina...	OMIM:257920
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares...	OMIM:312870
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Orofacial cleft, Lon...	ORPHA:77301
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Rhabdom...	OMIM:610505
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615109
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Increased nuchal translucency, Patent ductus arteriosus, Proximal muscle weakness in ...	ORPHA:280633
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Narrow palate, Long philtrum, Short nose	ORPHA:109
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth...	OMIM:200600
Lathosterolosis	Anteverted nares, Micrognathia, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, Hi...	OMIM:607330
Lymphatic Malformation 6	Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Webbed neck	OMIM:616843
Somatostatinoma	Hypercalcemia	ORPHA:97283
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, High nonceruloplasmin-bound serum copper, Limb hypertonia	ORPHA:457351
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Depressed nasal b...	OMIM:602535
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Short neck, Low posterior hairline, Pulmonic stenosis, Webbed ne...	ORPHA:1340
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:607721
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Grfoma	Hypercalcemia	ORPHA:97261
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep...	OMIM:618332
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodactyly of finger	OMIM:619951
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Adva...	ORPHA:1519
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Bohring-Opitz Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Camptodactyly	OMIM:605039
8P11.2 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Umbilical hernia	OMIM:619758
Microlissencephaly-Micromelia Syndrome	Short nose, Long philtrum	ORPHA:50810
Bent Bone Dysplasia Syndrome 2	Thickened nuchal skin fold, Short neck, Webbed neck, Atrial septal defect, Arthrogryposis multipl...	OMIM:620076
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Trisomy 18	Microretrognathia, Choanal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, Narrow mo...	ORPHA:3380
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Pearson Syndrome	Abnormal heart morphology, Hypophosphatemia, Cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagne...	ORPHA:699
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy	OMIM:618891
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive	OMIM:617864
Meier-Gorlin Syndrome 3	Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Thick vermili...	OMIM:613803
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy...	ORPHA:845
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic...	ORPHA:2369
Glucagonoma	Hypercalcemia	ORPHA:97280
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:619869
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Intrauterine growth retardation, U-Shaped...	OMIM:147791
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Ogden Syndrome	Micrognathia, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion, Microretrogn...	OMIM:300855
Deeah Syndrome	Narrow palate, Intrauterine growth retardation, High palate, Short philtrum, Narrow mouth, Promin...	OMIM:619004
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Flexion contracture, Camptodactyly	OMIM:207410
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis	OMIM:231070
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia	OMIM:615574
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 3rd finger, Ventri...	ORPHA:464738
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Delayed eruption ...	OMIM:600373
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261537
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, High palate, Long philtrum...	ORPHA:536467
Zttk Syndrome	Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ...	OMIM:617140
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ...	ORPHA:457395
Phocomelia, Schinzel Type	Micrognathia, High, narrow palate, Cleft palate, Intrauterine growth retardation, Short nose	ORPHA:2879
Multicentric Osteolysis, Nodulosis, And Arthropathy	Narrow nasal bridge, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Bulbous ...	OMIM:259600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary v...	ORPHA:261552
Rabson-Mendenhall Syndrome	Ventricular septal defect, Cardiomyopathy, Hypokalemia, Macroglossia, Atrial septal defect, Incre...	ORPHA:769
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Ascending tubular aorta aneurysm, Joint contracture, Camptodactyly, Atri...	OMIM:617403
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Abnormal palate ...	ORPHA:2719
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Protruding...	OMIM:612289
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose	ORPHA:93260
Spondylocarpotarsal Synostosis Syndrome	Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no...	OMIM:272460
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Mowat-Wilson Syndrome	Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu...	ORPHA:2152
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Narrow mouth, Bu...	OMIM:309590
Pallister-Killian Syndrome	Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck...	OMIM:601803
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr...	OMIM:180500
Short-Rib Thoracic Dysplasia 12	Natal tooth, Ventricular septal defect, Short neck, Patent ductus arteriosus, Anencephaly, Neonat...	OMIM:269860
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Micrognathia, Triangular mouth, Intrauterine growth retardation, Shor...	OMIM:618460
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular dilatation, Umbilica...	OMIM:613177
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, ...	ORPHA:261337
Spondyloocular Syndrome	Mitral valve prolapse, Low posterior hairline, Webbed neck, Atrial septal defect, Dysplastic aort...	OMIM:605822
Fanconi Anemia	Abnormality of chromosome stability, Spina bifida, Patent ductus arteriosus, Abnormal cardiac sep...	ORPHA:84
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Webbed neck	ORPHA:1439
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula	ORPHA:284984
Omodysplasia 1	Ventricular septal defect, Short neck, Pulmonary artery stenosis, Atrial septal defect, Umbilical...	OMIM:258315
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Tooth malposition, Depressed nasal bridge, Narrow palate	OMIM:277600
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:158350
Larsen Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short neck	ORPHA:251014
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decrea...	ORPHA:37042
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Short neck, Anencephaly, Atrial septal defect, Occipital meningo...	OMIM:616546
Tetrasomy 9P	Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Short neck, Abnormal ...	ORPHA:3310
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormal pulmonary valve morphology, Hypophosphatemia	ORPHA:667
Gabriele-De Vries Syndrome	Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries	OMIM:617557
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2554
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Sweeney-Cox Syndrome	Patent ductus arteriosus, Broad neck, Patent foramen ovale	OMIM:617746
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic valve morphology,...	ORPHA:567
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Knee flexion contracture, Car...	ORPHA:576
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypoplasia of the maxilla, W...	ORPHA:920
Neu-Laxova Syndrome 1	Broad neck, Ventricular septal defect, Spina bifida, Short neck, Patent ductus arteriosus, Stillb...	OMIM:256520
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Bartsocas-Papas Syndrome 1	Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Underdeveloped nasal alae, Cleft palate...	OMIM:263650
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a...	OMIM:617137
Trisomy 8P	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Cleft pal...	ORPHA:264450
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Achilles tendon contracture, Knee flexion contracture, Patent foramen o...	OMIM:618076
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612541
Juvenile Polyposis Of Infancy	Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology	ORPHA:79076
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy	OMIM:242840
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Short neck, Achilles tendon con...	OMIM:218040
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Osteopetrosis, Autosomal Recessive 5	Facial palsy, Hypocalcemia, Hyperbilirubinemia, Limb hypertonia	OMIM:259720
C Syndrome	Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Gingival overgro...	ORPHA:1308
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum	OMIM:258480
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Restrictive Dermopathy	Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Large placenta, ...	ORPHA:1662
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Warburg Micro Syndrome 2	Short nose, Prominent nasal bridge	OMIM:614225
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava	ORPHA:2886
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Doors Syndrome	Thickened nuchal skin fold, Sirenomelia, Delayed eruption of permanent teeth, Double outlet right...	ORPHA:79500
Shprintzen-Goldberg Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Retrognathia	ORPHA:2462
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Camptodactyly	ORPHA:261323
Hennekam Syndrome	Pericardial effusion, Camptodactyly of finger, Hypocalcemia	ORPHA:2136
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Depressed nasal ridge, Concave nasa...	OMIM:271665
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Depressed nasal bridge, Anteverted nares, Micrognathi...	ORPHA:536471
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Broad nasal tip, Wide anterior fontanel, Abnormality of ...	ORPHA:798
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Distal Deletion 19P	Hypoplasia of the maxilla, Short philtrum, Cleft palate	ORPHA:96129
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Aspartylglucosaminuria	Mandibular prognathia, Abnormality of the dentition, Carious teeth, Wide nasal bridge, Gingival o...	ORPHA:93
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Hypoplasia of the premaxilla, Macrodontia, Micrognathia, Hypoplasia of th...	ORPHA:1106
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge	OMIM:300661
Bardet-Biedl Syndrome 20	Atrial septal defect, Hypercholesterolemia	OMIM:619471
Sarcoidosis	Facial palsy, Hypercalcemia	ORPHA:797
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Witteveen-Kolk Syndrome	High, narrow palate, Short philtrum, High palate, Hyperplasia of the maxilla, Microretrognathia, ...	OMIM:613406
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Selective tooth agenes...	OMIM:129900
Cerebrocostomandibular Syndrome	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Webbed neck, Atri...	OMIM:117650
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Malar flattenin...	OMIM:101400
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Fryns Syndrome	Ventricular septal defect, Short neck, Aplasia of the left hemidiaphragm, Stillbirth, Camptodacty...	OMIM:229850
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Ethylene Glycol Poisoning	Facial palsy, Hyperkalemia, Hypocalcemia	ORPHA:31826
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric...	ORPHA:363958
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Intrauterine growth reta...	ORPHA:319182
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Broad neck, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic...	ORPHA:363700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Supernumer...	ORPHA:268261
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat...	OMIM:619573
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Greenberg Dysplasia	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Stillbirt...	OMIM:215140
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Neurofibromatosis-Noonan Syndrome	Short neck, Secundum atrial septal defect, Low posterior hairline, Pulmonic stenosis, Webbed neck	OMIM:601321
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid conc...	OMIM:614866
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum	OMIM:614185
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Hypocalcemia	OMIM:218330
Cranioectodermal Dysplasia 2	Left ventricular hypertrophy, Short neck, Patent ductus arteriosus, Atrial septal defect, Cystic ...	OMIM:613610
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High, narrow palate, Long philtrum	ORPHA:1101
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect	OMIM:263520
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula	OMIM:609166
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Facial palsy, Atrial septal defect, Patent foramen ovale, Right vent...	OMIM:620186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Selective tooth agenes...	OMIM:604292
2Q37 Microdeletion Syndrome	Umbilical hernia, Abnormal aortic morphology, Congenital diaphragmatic hernia, Short neck	ORPHA:1001
Simpson-Golabi-Behmel Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, ...	ORPHA:373
Leptospirosis	Hyperproteinemia	ORPHA:509
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus	ORPHA:2538
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ...	ORPHA:96334
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Narrow mouth, Short ...	ORPHA:1272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Short neck, Patent ductus arteriosus, Flexion contracture, Elbow flexion contrac...	OMIM:300868
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Dow...	OMIM:619522
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Thick vermilion border, High palate, Narro...	OMIM:224690
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Wide anterior fontane...	ORPHA:95699
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, High palate, Tooth malposition	OMIM:608328
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Flexion contracture	ORPHA:398069
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ...	OMIM:269150
Geleophysic Dysplasia 1	Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:231050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Downturned corners of mouth, Glossoptos...	ORPHA:444077
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Short neck, Flexion contracture, Atrial septal ...	OMIM:271640
Diamond-Blackfan Anemia 21	Secundum atrial septal defect	OMIM:620072
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Patent ductus arteriosus, Flexion contracture, Hydropic plac...	OMIM:275210
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter...	OMIM:235730
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower...	ORPHA:459070
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect, Progressive flexion contractures	ORPHA:522077
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper lip vermilion...	OMIM:609945
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Increased nuchal transluc...	ORPHA:818
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, High palate,...	OMIM:620330
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620005
Degcags Syndrome	Anteverted nares, Prominent nasal bridge, Prominent nose, Micrognathia, Protruding tongue, Wide m...	OMIM:619488
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:278800
Genitourinary And/Or Brain Malformation Syndrome	Long philtrum, Aplasia of the nasal bone, Short nose, Micrognathia	OMIM:618820
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Cleft palate, Short columella, High palate, Narrow m...	OMIM:601776
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Patent ductus arteriosus, Patent foramen ovale, Short neck	OMIM:300990
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro...	OMIM:620305
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Long philtrum, S...	OMIM:134780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Increased nuchal translucency, Card...	ORPHA:3472
Cornelia De Lange Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathi...	ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Arthrogryposis multiplex congenita, Dilation of Virchow-Robin spaces	OMIM:619512
Poland Syndrome	Encephalocele, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Aplasia of the pectoral...	ORPHA:2911
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Carotid artery dilatation, Dilatation of the cerebral art...	ORPHA:391487
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ...	ORPHA:2729
Peters Plus Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr...	ORPHA:709
Distal Deletion 12Q	Short neck, Patent ductus arteriosus, Elbow flexion contracture, Congenital hypertrophy of left v...	ORPHA:96149
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Patent foramen ovale, Arteria lusoria	OMIM:618653
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Ventricular septal defect, Patent foramen ovale	OMIM:613884
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Congenital diaphragmatic hernia, Low posterior hairline, Abnorma...	ORPHA:280
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem...	ORPHA:466650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Downturned corners of mouth, Intrauterine growth retardation, Short nose, Conv...	OMIM:619321
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Atrial...	OMIM:615948
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Anteverted nares, High, narrow palate, Bulbous nose, Short uvula, Wide ...	OMIM:619475
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Flexion contracture	OMIM:609069
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares	ORPHA:3339
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Facial palsy	OMIM:113650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Downturned co...	ORPHA:500150
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Johanson-Blizzard Syndrome	Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi...	OMIM:243800
Digeorge Syndrome	Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia	OMIM:188400
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:613355
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron...	ORPHA:51608
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula	ORPHA:50815
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Short neck	OMIM:250220
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Acrocephalopolydactylous Dysplasia	Short nose	OMIM:200995
Bor Syndrome	Branchial cyst, Facial palsy	ORPHA:107
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Patent duc...	OMIM:135900
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve...	OMIM:619534
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Mandibuloacral Dysplasia Progeroid Syndrome	Left ventricular hypertrophy, Mitral valve calcification, Flexion contracture, Patent foramen ovale	OMIM:619127
Branchiootic Syndrome	Branchial fistula, Facial palsy	ORPHA:52429
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M...	OMIM:261540
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Low posterior hairline, Webbed neck, Atrial sep...	OMIM:194190
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Short neck, Patent ductus arteriosus, Front...	OMIM:268300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect	ORPHA:2526
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Spina bifida, Short neck, Stillbirth, Atrial septal defect, Umbilical hernia, ...	OMIM:304120
Branchiooculofacial Syndrome	Depressed nasal bridge, Micrognathia, Broad nasal tip, Cleft upper lip, Lower lip pit, Cleft of c...	OMIM:113620
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Lower limb hypertonia, Patent foramen ovale	ORPHA:477993
Primrose Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla, Thick lower...	OMIM:259050
Townes-Brocks Syndrome 1	Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Knee flexion contracture, ...	OMIM:606170
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Neonatal hyperbilirubinemia	OMIM:300896
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar...	ORPHA:506358
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Patent foramen ovale, Facial palsy	OMIM:619325
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth	OMIM:606721
Igg4-Related Kidney Disease	Pericarditis, Abnormal aortic morphology, Arteritis	ORPHA:449395
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Subarterial ventricular s...	ORPHA:99646
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrial septal defect, Umbilical hernia, Neonatal death	OMIM:308205
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot, Patent foram...	OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106

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 Baz1b

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 Baz1b.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.	Developmental biology (October 2023)	Baz1b^{tm2a(KOMP)Wtsi}	37827362
Behavioral Studies of p62 KO Animals with Implications of a Modulated Function of the Endocannabinoid System.	Cells (April 2022)	Baz1b^{tm2a(KOMP)Wtsi}	PMC9100981
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Baz1b^{tm2a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Baz1b^{tm2a(KOMP)Wtsi}	PMC6459510
BAZ1B is dispensable for H2AX phosphorylation on Tyrosine 142 during spermatogenesis.	Biology open (May 2015)	Baz1b^{tm2a(KOMP)Wtsi}	PMC4571090
Optimising experimental design for high-throughput phenotyping in mice: a case study.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2010)	Baz1b^{tm1a(KOMP)Wtsi}	PMC2974211

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
Baz1b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Baz1b^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Baz1b^{tm3a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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