Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Baz1btm2a(KOMP)Wtsi HOM Early adult 2.74×10-11
decreased body weight Baz1btm2a(KOMP)Wtsi HET Early adult 9.45×10-07
decreased circulating HDL cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 5.45×10-07
preweaning lethality, incomplete penetrance Baz1btm2a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating chloride level Baz1btm2a(KOMP)Wtsi HET Early adult 1.58×10-05
decreased circulating total protein level Baz1btm2a(KOMP)Wtsi HET Early adult 5.63×10-05
decreased circulating cholesterol level Baz1btm2a(KOMP)Wtsi HET Early adult 2.03×10-09
abnormal startle reflex Baz1btm2a(KOMP)Wtsi HET   Early adult 5.10×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 285 images

Human diseases caused by Baz1b mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Williams Syndrome
Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitra... ORPHA:904

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, Short philtrum, H... ORPHA:217340
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Pierre Robin Syndrome
Cor pulmonale OMIM:261800
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Intrauterine growth retardat... ORPHA:1832
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Dental malocclusion, Anteverted nares, High palate OMIM:618292
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect ORPHA:101028
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Underdeveloped nasal alae, Widely spaced teeth OMIM:616108
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Mcdonough Syndrome
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal... ORPHA:2471
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Prominent nose, Micrognathia, In... OMIM:613684
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis OMIM:616559
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Right ventricular dilatation OMIM:619705
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615297
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology,... ORPHA:1120
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, In... OMIM:253250
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Low posterior hair... OMIM:179613
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Low posterior ha... OMIM:612863
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Deep ... ORPHA:261120
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Dental malocclusion OMIM:615541
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Open bite, Anteverted n... ORPHA:1327
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Stroke-like episode, Abnormal cardiac atrium morphology, Left atrial enla... ORPHA:563
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Lo... OMIM:220210
Adamantinoma
Hypercalcemia ORPHA:55881
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Increased nuchal translucency, Patent foramen ovale, Ventricular septa... OMIM:618494
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, Convex nasal ridge, High palat... ORPHA:1695
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:615917
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Atrial Septal Defect, Sinus Venosus Type
Stroke, Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-space... OMIM:619719
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:618354
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Short nose OMIM:613670
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Broad columella, Underdeveloped nasal alae, Diastema, Micrognathia, Malar fl... ORPHA:436245
Alpha-Mannosidosis
Depressed nasal bridge, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open... ORPHA:61
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Shor... OMIM:618804
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Long nose, Low ha... OMIM:613680
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmo... ORPHA:2876
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def... OMIM:620070
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Craniosynostosis 3
Dental malocclusion OMIM:615314
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Mandibular pro... ORPHA:2429
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circul... OMIM:214700
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Short neck, Atrial septal ... OMIM:606003
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Micrognathia, Wide mouth, Smooth philtrum, Prominent nasal ... OMIM:610883
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ... ORPHA:26793
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Noonan Syndrome 10
Webbed neck, Hypertrophic cardiomyopathy, Increased nuchal translucency, Mitral stenosis, Mitral ... OMIM:616564
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Atrial Septal Defect, Coronary Sinus Type
Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo... ORPHA:99104
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Increased circulating brain natriur... OMIM:601494
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Tetralogy of Fallot, Patent foramen ovale, Ventricular septa... OMIM:618316
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, ... ORPHA:363705
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ... OMIM:616331
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion b... OMIM:618506
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Anteverte... OMIM:619293
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Micrognathia, Narrow mouth, Abnormal palate morphology, Short nose ORPHA:1495
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Three M Syndrome 2
Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Anteverted... OMIM:612921
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Ventricular septal defect, Short neck, Coarctation of aorta,... OMIM:300514
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Open mouth, Thin upper lip vermilion OMIM:619149
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Congenital Myopathy 11
Abnormal circulating creatine kinase concentration, Atrial septal defect, Patent foramen ovale, W... OMIM:619967
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:614857
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Absent nasal bridge, Wide anterior fontanel, Cleft palate OMIM:608545
Peho-Like Syndrome
Open mouth, Retrognathia, Short nose OMIM:617507
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Fanconi Anemia, Complementation Group S
Dental malocclusion, Underdeveloped nasal alae, Thick upper lip vermilion, Macrodontia, Anteverte... OMIM:617883
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t... OMIM:618727
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu... OMIM:166750
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide nasal bridge, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, ... ORPHA:85321
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology... ORPHA:980
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Retrognathia, Anteverted nares, Micrognathia, Open mouth,... ORPHA:2849
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l... OMIM:156510
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertrophy, Right atrial ... ORPHA:99106
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Mandibular prognathia, Short nose OMIM:300143
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspid aortic valve, ... OMIM:605275
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Bicuspid aortic valve, Atrial septal defect, Decreased serum... OMIM:617744
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... ORPHA:2008
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Intrauterine growth retardation,... OMIM:613604
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Dental malocclusion, Open bite, Abnormal dental morphology, High palate, Mandi... ORPHA:3079
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Increased nuchal translucency, Partial atrioventricular canal defe... OMIM:620066
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose ORPHA:1389
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Depressed nasal bridge, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, ... OMIM:612350
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Dengue Fever
Hypoproteinemia ORPHA:99828
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Atrial septal defect ORPHA:51208
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Foot dorsiflexor weakness, Hypocalcemia, Elevated circulating creatine... OMIM:615883
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating glutaric acid concentrati... ORPHA:66634
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Coarctation of aorta, Low posterior hairline, Dextrocardia OMIM:618929
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Anteverted nares, Thin upper lip vermilion, Everted lower lip ver... OMIM:617877
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Harrod Syndrome
Dental malocclusion, Intrauterine growth retardation, Narrow mouth, Long nose, High palate ORPHA:2115
Sotos Syndrome
Muscular ventricular septal defect, Ventricular septal defect, Advanced eruption of teeth, Atrial... OMIM:117550
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Omenn Syndrome
Hypoproteinemia, Failure to thrive OMIM:603554
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Broad philtrum, Short nose ORPHA:502430
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Redundant neck skin, Atrial septal... OMIM:618652
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion OMIM:144750
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Thin upper lip vermilion, S... OMIM:613544
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal de... OMIM:615279
Alg9-Cdg
Hypoplasia of the musculature, Thickened nuchal skin fold, Abnormal heart morphology, Abnormal re... ORPHA:79328
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Webbed neck, Spina bifida occulta, Low posterior hairline OMIM:619227
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Micrognathia, Thin upper lip vermilion, Smooth philtrum, Slender... OMIM:615419
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele ORPHA:217
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal ca... ORPHA:96147
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of perman... OMIM:619356
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Coarctation of ... OMIM:264480
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Micrognathia, Thin upper lip vermilion, Deep philtrum, High palate, Short nose ORPHA:329178
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth... ORPHA:261295
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive ORPHA:2315
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Osteosclerosis of ... ORPHA:210110
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Short nose ORPHA:1514
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Atrial septal defect OMIM:620211
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Zimmermann-Laband Syndrome
Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Gingival fibromatosis, Hypodontia, Macroglos... ORPHA:3473
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... OMIM:617602
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Short philtrum, Thin vermilion border, High palate... OMIM:617991
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Mosaic Trisomy 16
Craniofacial asymmetry, Abnormal heart morphology, Large placenta, Ventricular septal defect, Sin... ORPHA:1708
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Micrognathia, Promi... ORPHA:1716
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Broad philtrum, Short nose OMIM:618577
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis OMIM:615508
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Short columella, ... OMIM:136760
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Widely-spaced... OMIM:618737
Pierpont Syndrome
Broad nasal tip, Widely spaced teeth, Malar flattening, Prominent median palatal raphe, Smooth ph... OMIM:602342
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Prominent nose, Micrognathia, Int... OMIM:210600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Intrauterine growth retardation, Narrow mouth, Short nose ORPHA:2370
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose ORPHA:90653
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Short... ORPHA:166272
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Short neck ORPHA:2516
Acrootoocular Syndrome
Wide nasal base, High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Grayish ena... ORPHA:2980
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect OMIM:300887
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Cystic hygroma, Umbilical hernia, Mitral atresia, ... OMIM:618164
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Agenesis of pe... ORPHA:251028
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Wide nasal bridge, Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Peripheral pulmonary artery stenosis, Broad neck, Aortic root aneurysm, Hypertrophic... OMIM:617506
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy... OMIM:615355
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:615895
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect OMIM:249270
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta, Congenital diaphragmatic hernia, Delayed eru... ORPHA:2409
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect ORPHA:49827
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614114
Short Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal alae, Dow... OMIM:269880
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL cholesterol concentration, Eleva... OMIM:618156
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Kleefstra Syndrome
Delayed eruption of teeth, Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:261494
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Thin ... ORPHA:1895
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Micrognathia, Malar flattening, Convex nasal ridge, Cleft palate... ORPHA:2145
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... OMIM:601224
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Kabuki Syndrome 2
Natal tooth, Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic ... OMIM:300867
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, M... OMIM:601390
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch, Macroglossia, Arthrogryposis multiplex... ORPHA:79321
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Abnormal mitral valve morphology, Stroke, Right atrial enlargement, Ri... ORPHA:99103
Elsahy-Waters Syndrome
High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thin upper lip v... OMIM:211380
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Coarctation of a... OMIM:614921
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Septopreoptic Holoprosencephaly
Coarctation of aorta, Ethmoidal encephalocele ORPHA:280195
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Bulbous nose, Micro... OMIM:190350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Myopathy, Myofibrillar, 8
High palate, Micrognathia, Dental malocclusion OMIM:617258
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Short nose, Wide nose ORPHA:2831
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Long philtrum, Micrognathia, Malar flattening, Short nose ORPHA:93328
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Short nose ORPHA:969
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Micrognathia, Short nose OMIM:615042
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Webbed neck, Ventricular septal defect OMIM:601355
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosis OMIM:241310
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Dental malocclusion, Facial palsy s... OMIM:269500
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Intrauterine growth retardation, Malar flattening, Mand... OMIM:614613
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Flexion... OMIM:613870
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Delayed eruption of teeth, Coarctation of aorta, Spina bifida occulta, Fac... ORPHA:2780
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus,... OMIM:617478
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Achondrogenesis
Anteverted nares, Micrognathia, Long philtrum, Short nose ORPHA:932
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access... OMIM:619142
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569