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Gene: Baz1b MGI:1353499

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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 System Allele Zyg Sex Life Stage P Value
decreased body weight Baz1btm2a(KOMP)Wtsi HET Early adult 9.45×10-07
decreased circulating cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 2.03×10-09
increased circulating chloride level Baz1btm2a(KOMP)Wtsi HET Early adult 1.58×10-05
abnormal startle reflex Baz1btm2a(KOMP)Wtsi HET   Early adult 5.10×10-05
decreased body weight Baz1btm2a(KOMP)Wtsi HOM Early adult 2.74×10-11
decreased circulating HDL cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 5.45×10-07
decreased circulating total protein level Baz1btm2a(KOMP)Wtsi HET Early adult 5.63×10-05

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
Baz1btm2a(KOMP)Wtsi
body, HET, Female, WTSI
Baz1btm2a(KOMP)Wtsi
head, HET, Female, WTSI
Baz1btm2a(KOMP)Wtsi
WT, Male, WTSI
Baz1btm2a(KOMP)Wtsi
body, WT, Male, WTSI
Baz1btm2a(KOMP)Wtsi
body, WT, Male, WTSI

View all 285 images

Baz1btm2a(KOMP)Wtsi
upturned snout, short snout, HOM, Female, WTSI
Baz1btm2a(KOMP)Wtsi
HET, Female, WTSI
Baz1btm2a(KOMP)Wtsi
HET, Male, WTSI
Baz1btm2a(KOMP)Wtsi
tail skin, WT, Female, WTSI
Baz1btm2a(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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Macroglossia, Ov... ORPHA:904

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... 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, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Stroke, Right ventricular dilatation, Left atrial enlargement OMIM:614022
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... OMIM:618164
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... OMIM:613684
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
17Q21.31 Microduplication Syndrome
High palate, Malar flattening, Micrognathia, Abnormality of the dentition, Short philtrum, Short ... ORPHA:217340
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta OMIM:614300
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Left ventricular hypertrophy, Right ventricul... ORPHA:217607
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gingival fibromatosis, Sh... ORPHA:1832
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
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
Anteverted nares, Mandibular prognathia, Dental malocclusion, High palate OMIM:618292
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta ORPHA:101028
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Prominent nose, Abnormal palate mor... ORPHA:2471
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Noonan Syndrome 9
Pulmonic stenosis, Short neck, Coarctation of aorta, Ventricular septal defect, Webbed neck OMIM:616559
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Right ventricular dilatation OMIM:619705
Maxillonasal Dysplasia
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... ORPHA:1248
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... OMIM:612863
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta OMIM:615502
Catel-Manzke Syndrome
Short neck, Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Cystic ... OMIM:616145
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Mulibrey Nanism
Dental malocclusion, Hypodontia, Depressed nasal bridge, Enamel hypoplasia, Hypoplastic frontal s... OMIM:253250
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Stroke, Myofiber disarray, Muscular ventricular septal defect, Myopathy... OMIM:115197
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Micrognathia, Lon... ORPHA:261120
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Wide mouth, Carious teeth, Prominent nose, Mandibular prognathi... OMIM:249630
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Stroke-like episode, Myocarditis, Dilated cardiomyopathy, Left atri... ORPHA:563
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... ORPHA:1327
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Adamantinoma
Hypercalcemia ORPHA:55881
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose OMIM:615541
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... ORPHA:3426
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Hypocholesterolemia OMIM:610539
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... ORPHA:1695
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis OMIM:143880
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Stroke, Right ventricular dilatation ORPHA:99105
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Micrognathia, Diastema, Broad columella, Underdeveloped na... ORPHA:436245
Ménétrier Disease
Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Dila... OMIM:601494
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Hypoplastic left heart, Coar... OMIM:301022
Sandestig-Stefanova Syndrome
Short neck, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal ... OMIM:618804
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:601005
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Depressed nasal... ORPHA:61
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Rhiny
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... ORPHA:363444
Phaver Syndrome
Myelomeningocele, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery atresia, Ventri... ORPHA:2876
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth OMIM:613670
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate OMIM:608931
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Cleft palate, Everted lower lip vermilion, Broad nasal tip, ... OMIM:619736
Transaldolase Deficiency
Atrial septal defect, Short neck, Coarctation of aorta, Ventricular septal defect, Patent ductus ... OMIM:606003
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Low hanging columella, Long nose, Micrognathia... OMIM:613680
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... OMIM:601186
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose, Mandibular prognathia, Thin ... ORPHA:2429
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Ano... ORPHA:99104
Craniosynostosis 3
Dental malocclusion OMIM:615314
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Short nec... OMIM:616564
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Increased nuchal translucency, Atrioventricular canal defe... OMIM:605275
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Broad nasal tip, Incisor macrodontia, Widely-spaced maxillary central inciso... OMIM:619719
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect ORPHA:1388
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... ORPHA:26793
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Stroke, Anomalo... ORPHA:363705
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Micrognathia, Downturned corners of mouth, Short nose, Anteverted nares, ... OMIM:614744
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Mcdonough Syndrome
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Prominent nose, Mandibular pr... OMIM:248950
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Micrognathia, Short nose, Abnormal palate morphology, Intrauterine growth retardation ORPHA:1495
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Short philtrum, Microdontia, Enamel hypoplasia, Widely spaced te... OMIM:619293
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Short nose, Long philtrum ORPHA:2598
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum ORPHA:46
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... OMIM:603463
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft pa... OMIM:616331
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta OMIM:614857
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Three M Syndrome 2
High palate, Dental malocclusion, Prominent nasal tip, Malar flattening, Depressed nasal bridge, ... OMIM:612921
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal circulating histidine concentration ORPHA:51208
Myopathy, Congenital, Nonprogressive
Abnormal circulating creatine kinase concentration, Weakness of facial musculature, Atrial septal... OMIM:619967
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Paten... OMIM:617159
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Wide mouth, Prominent nasal tip, Micrognathia, Dental crowding,... OMIM:610883
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Cleft palate, Malar flattening, Absent nasal bridge OMIM:608545
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... OMIM:265380
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Cleft palate, Micrognathia, Short nose, Wide nasal bridge OMIM:614078
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Macrodontia, Anteverted nares, Pro... OMIM:617883
Burn-Mckeown Syndrome
Bilateral choanal atresia, Short nose, Abnormal palate morphology, Prominent nasal bridge, Wide n... ORPHA:1200
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Camptodactyly, Ventr... OMIM:617602
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lessel-Kreienkamp Syndrome
Dental malocclusion, Thin upper lip vermilion, Wide nasal bridge, Open mouth OMIM:619149
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... ORPHA:980
Perlman Syndrome
High, narrow palate, Retrognathia, Micrognathia, Broad alveolar ridges, Abnormality of upper lip,... ORPHA:2849
Short Syndrome
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... OMIM:269880
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Intellectual Developmental Disorder, X-Linked 21
Short nose, Tented upper lip vermilion, Open mouth, Dental crowding, Mandibular prognathia OMIM:300143
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Diaphragmatic eventration, Elevated circulating glutaric acid... ORPHA:66634
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Left ventricular hypertrophy, Pulmonary artery dilatation, Left atrial ... ORPHA:99106
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Decreased serum creatinine, Hypocystinemia OMIM:617744
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Dental crowding, Everted lower lip vermilion, Anterior open-bite malocclusion, Long ... OMIM:617877
Atrial Standstill
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Ischemic stroke, Skeleta... ORPHA:1344
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Camptodactyly of finger, Coarctation of aorta, Tetralogy o... ORPHA:2008
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... OMIM:619167
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Advanced eruption of teeth, Ventricular... OMIM:117550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Short nose, Microretrognathia, Long philtrum ORPHA:1389
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... ORPHA:1906
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Pulmonic stenosis, Short neck, Ventricular septal defect, Webbed neck, Hype... OMIM:615279
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Mandibular prognat... ORPHA:3079
Dengue Fever
Hypoproteinemia ORPHA:99828
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Low posterior hairline, Atrioventricular canal defect OMIM:618929
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Short nose, Ante... OMIM:617991
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid... OMIM:615160
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Micrognathia, Short nose, Open mouth, Thin upper lip vermilion, Intrau... OMIM:613604
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Webbed neck, Low posterior hairline, Muscular ventricular septal defect OMIM:619227
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Myopathy, Tubular Aggregate, 2
Foot dorsiflexor weakness, Hypocalcemia, Elevated circulating creatine kinase concentration, Flex... OMIM:615883
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Convex nasal ridge, Thin vermilion border, Short philtrum, Hypoplasia of... OMIM:156510
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Depressed nasal bridge, Micrognathia, Long philtrum, Widely ... OMIM:249620
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pat... OMIM:618748
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Thickened nuchal skin fold, Sho... ORPHA:79328
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Depressed nasal bridge, Delayed eruption of teeth, ... OMIM:612350
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal bridge OMIM:616430
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Triangular mouth, Broad nasal tip, Micrognathia, Abnormality of the dentitio... OMIM:618529
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect OMIM:613355
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Long nose, Intrauterine growth retardation ORPHA:2115
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Micrognathia, Deep philtrum, Short nose, Thin upper lip vermilion ORPHA:329178
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:601450
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Micrognathia, Microdontia, Short nose, Open mouth, Anteverted nares, Delayed erupti... OMIM:619356
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Depressed nasal bridge, Long philtrum, Hypoplasia of the maxilla,... ORPHA:261295
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, High palate, Convex nasal ridge, Persistence of pr... ORPHA:763
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:600460
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Intermediate Osteopetrosis
Dental malocclusion, Abnormality of dental morphology, Osteosclerosis of the base of the skull, A... ORPHA:210110
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Distal Trisomy 18Q
High palate, Micrognathia, Carious teeth, Short nose, Choanal atresia, Anteverted nares, Abnormal... ORPHA:1716
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Short neck, Ventricular se... OMIM:615355
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... ORPHA:137888
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum ORPHA:438178
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... ORPHA:3473
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Mosaic Trisomy 16
Abnormal heart morphology, Atrial septal defect, Single coronary artery origin, Craniofacial asym... ORPHA:1708
Craniofaciofrontodigital Syndrome
Dental malocclusion, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Short n... OMIM:114620
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Stickler Syndrome Type 1
Short nose, Hypoplasia of the maxilla, Long philtrum, Cleft palate ORPHA:90653
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Lowry-Maclean Syndrome
Coarctation of aorta, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Atriove... ORPHA:2409
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Stroke ORPHA:49827
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed eruption of teeth, Short... ORPHA:166272
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Bifid nose, Bifid nasal tip, Hypoplastic frontal sinuses, H... OMIM:136760
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta, Patent... OMIM:618454
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Long philtrum, Short nose, Anteverted nares, Broad philtrum, Wide nasal bridge OMIM:618577
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth... OMIM:618737
Seckel Syndrome 1
High palate, Dental malocclusion, Convex nasal ridge, Cleft palate, Micrognathia, Enamel hypoplas... OMIM:210600
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short philtrum, Long phil... OMIM:617752
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Slender nose, Micrognathia, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:615419
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Short philtrum, Microretrognathia, Wide nasal bridge OMIM:613603
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Dental malocclusion, Narrow mouth, Convex nasal ridge, Cleft palate, Micrognathia, A... ORPHA:251028
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Long nose OMIM:601095
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus, Broad n... OMIM:300963
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Bulbous nose, Short philtrum, Hypoplasia of the maxilla ORPHA:93945
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614114
Pallister-Hall-Like Syndrome
Cleft palate, Depressed nasal bridge, Micrognathia, Short nose, Median cleft lip, Microglossia OMIM:241800
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta, Nat... OMIM:300867
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi... ORPHA:884
Alg3-Cdg
Macroglossia, Coarctation of the descending aortic arch, Neural tube defect, Arthrogryposis multi... ORPHA:79321
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Pierpont Syndrome
Prominent median palatal raphe, Malar flattening, Everted lower lip vermilion, Thin vermilion bor... OMIM:602342
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Wide anterior fontanel, Malar flattening, Micrognathia, Downtur... OMIM:615546
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Thin vermilion border, Carious teeth, Deep philtrum, Short nose, Ante... ORPHA:2701
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Cleft palate, Micrognathia, Short nose, Intrauterine growth... ORPHA:2145
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... ORPHA:2980
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Monosomy 13Q34
Pulmonic stenosis, Infantile hypercalcemia, Common atrium ORPHA:96168
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Downturned corners of mouth, Short nose, Choan... ORPHA:1895
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Kleefstra Syndrome
Bicuspid aortic valve, Macroglossia, Delayed eruption of teeth, Tetralogy of Fallot, Advanced eru... ORPHA:261494
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Ventricular septal defect, Patent ductus arteriosus, C... OMIM:613870
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Wide anterior fontanel, Malar flattening, Micrognathia, Downtur... OMIM:601390
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Short nose, Intrauterine growth retardation, Narrow mouth ORPHA:2370
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Wide nasal bridge, Carious teeth OMIM:615560
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Right atrial enlargement, Stroke, Transient ischemic attack, Ri... ORPHA:99103
Acrodysostosis 2 With Or Without Hormone Resistance
Malar flattening, Depressed nasal bridge, Short nose, Anteverted nares, Mandibular prognathia, In... OMIM:614613
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, ... OMIM:615474
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... OMIM:190350
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Delayed eruption of teeth, Spina bifida occulta, Coarctation of aorta, Fac... ORPHA:2780
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Short philtrum, Downturned corners of mouth, Short nose, Anteverted nares OMIM:613443
Septopreoptic Holoprosencephaly
Coarctation of aorta, Ethmoidal encephalocele ORPHA:280195
Autosomal Dominant Omodysplasia
Malar flattening, Depressed nasal bridge, Micrognathia, Long philtrum, Short nose ORPHA:93328
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, Cardiome... OMIM:614921
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Short nose, Mandibular prognathia, Depressed nasal ridge ORPHA:2831
Oculoectodermal Syndrome
Atrial septal defect, Short neck, Coarctation of aorta, Patent ductus arteriosus, Transient ische... OMIM:600268
Achondrogenesis
Anteverted nares, Micrognathia, Short nose, Long philtrum ORPHA:932
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Sclerosteosis 1
Dental malocclusion, Tooth malposition, Malar flattening, Depressed nasal bridge, Facial palsy se... OMIM:269500
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short nose, Malar flattening OMIM:614524
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Short nose, Thin upper lip vermilion OMIM:615042
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Short neck, Coarct... OMIM:617506
Dentinogenesis Imperfecta
Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of ... ORPHA:49042
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery ... ORPHA:1692
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Polysyndactyly With Cardiac Malformation