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Gene: Ap2b1 MGI:1919020

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Gene Summary

Name:
adaptor-related protein complex 2, beta 1 subunit
Synonyms:
1300012O03Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ap2b1em1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Ap2b1em1(IMPC)J HOM E18.5 0.00
decreased grip strength Ap2b1em1(IMPC)J HET Early adult 7.91×10-05
cleft palate Ap2b1em1(IMPC)J HOM E18.5 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Gross Morphology Embryo E18.5

Images

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Placenta E18.5

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Ap2b1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ap2b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Syngnathia
Cleft palate OMIM:119550
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the... OMIM:231060
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... OMIM:611556
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, M... OMIM:617616
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Persistent left supe... ORPHA:3304
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy OMIM:115210
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Hydr... OMIM:601927
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
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
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Lethal Congenital Contracture Syndrome 10
Narrow palate, Increased variability in muscle fiber diameter, Long philtrum, Micrognathia, Ventr... OMIM:617022
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Chronic sinusitis, ... OMIM:620642
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven... OMIM:600987
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphology, Congenital ... ORPHA:294975
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Long... OMIM:300845
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocardia OMIM:617577
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weakness, Patent fo... ORPHA:477817
Classic Multiminicore Myopathy
Muscular dystrophy, Microretrognathia, Muscle fiber atrophy, Multiple joint contractures, Mitral ... ORPHA:324604
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs of ribs, Anterior open-... OMIM:617877
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Micrognathia, Conotruncal defect, Median cleft palate, Aplasia/hyp... ORPHA:40366
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ventricular hypertrophy, Dilate... OMIM:615248
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ... OMIM:617168
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... ORPHA:3426
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
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
Nemaline Myopathy 9
Nemaline bodies, Micrognathia, Ventricular septal defect, High palate, Arthrogryposis multiplex c... OMIM:615731
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... ORPHA:353
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... ORPHA:206546
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Micrognathia, Abnormal lower lip morphology, Abnormal aortic... ORPHA:1166
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... ORPHA:2248
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Diaphragmatic eventration, Aplasia of the right hemidia... OMIM:608978
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Cleft upper... OMIM:612561
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Atrial Fibrillation, Familial, 10
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... ORPHA:1919
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Bifid uvula, Retrognathia, Abnormal heart valve morph... ORPHA:169186
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Patent foramen ovale, Ventricular sept... OMIM:614261
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... OMIM:619657
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Sprengel Deformity
Cleft palate ORPHA:3181
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Complete atrioventricular canal defect, Coarctation of aorta, Orofacial clef... OMIM:217085
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Parc Syndrome
Cleft palate OMIM:600331
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Stroke-like episode, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Diabetes m... OMIM:540000
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Mala... OMIM:158170
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Cardiomyopathy, Hyperplasia... OMIM:300280
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicuspid aortic va... OMIM:265380
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Te... OMIM:601186
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
14Q11.2 Microdeletion Syndrome
Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, De... ORPHA:261120
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Taurodontia, Perimembranous ventricular septal defect, Enamel hypoplasia, At... OMIM:618205
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Decreased circulating T4 concentration, Cryptorchidism... OMIM:608104
Sandestig-Stefanova Syndrome
Retrognathia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Orofa... OMIM:618804
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Abnormal mitral valve morphology, Mesom... ORPHA:1277
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,... OMIM:178600
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Tangier Disease
Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Coronary artery atherosclerosi... OMIM:205400
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Catel-Manzke Syndrome
Bifid uvula, Short femur, Short toe, Cleft upper lip, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:616145
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Mandibular pr... ORPHA:3434
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Exaggerated cupid's bow, Ventricular septal defect, Bi... OMIM:618619
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Thick vermi... ORPHA:251076
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricula... ORPHA:335
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Micrognathia, Abnormal aortic morphology, Tr... ORPHA:2516
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Everted lower lip vermilion, Atrial septal defect, Torticollis, Patent... OMIM:249670
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Micrognathia, Malar flattening, Ventricular septal defect... ORPHA:1388
Tetrasomy 15Q26
Microretrognathia, Atrial septal defect, High palate, Camptodactyly, Hypoplastic aortic arch, Pat... OMIM:614846
Tetralogy Of Fallot
Tetralogy of Fallot, Cryptorchidism, Thin vermilion border ORPHA:3303
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Ri... OMIM:616028
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Left ventricular hypertro... OMIM:615355
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis OMIM:615542
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Hypertrophic cardiomyopathy, Left atrial enlarg... OMIM:608751
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Open mouth, Cryptorchidism, Left ventricular hypertrophy, Macroglossia, Flexi... OMIM:613156
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Fetal Minoxidil Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Thick lower lip vermilion, Thick upper l... OMIM:239850
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Complete atrio... OMIM:619142
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Patent ductus arteriosus, Atri... OMIM:267010
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... ORPHA:2001
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... OMIM:608227
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Congenital diaphragm... OMIM:615524
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Cryptorchidis... OMIM:618316
Fryns Syndrome
Abnormal aortic arch morphology, Short distal phalanx of finger, Non-midline cleft of the upper l... ORPHA:2059
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Maternal Phenylketonuria
Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart morphology, Micrognath... ORPHA:2209
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... ORPHA:99725
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Nephrogenic ... OMIM:208085
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin... OMIM:612949
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H... ORPHA:94066
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect,... OMIM:618021
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistula, Micrognath... OMIM:619343
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Retrognath... OMIM:613177
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Median cleft upper lip, Aplasia/Hypoplasia of the thumb,... ORPHA:3186
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Left ventricular hypertrophy OMIM:613838
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transposition of the great arteries... ORPHA:1913
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Short distal phalanx of finger, Cleft palate, Ventricular septal defect OMIM:601355
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Absence of the sacrum, Duodenal atresia, Atrioventricula... OMIM:270100
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology... ORPHA:980
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... OMIM:616652
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction, Left v... OMIM:300967
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Rhizomelic arm shortening, Malar fla... OMIM:101200
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Abnormal pa... ORPHA:2022
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Thin ver... OMIM:615502
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Short thumb, Gingival overgrowth, O... OMIM:619148
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrogenic diabetes insipidus, Hepatomegaly, Arthrogryposis multiplex... OMIM:613404
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal... OMIM:611376
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Lowry-Maclean Syndrome
Abnormal heart morphology, Delayed eruption of teeth, Cleft palate, Diaphragmatic eventration OMIM:600252
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... OMIM:616564
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis OMIM:613873
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h... ORPHA:3093
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec... OMIM:603387
Linear Skin Defects With Multiple Congenital Anomalies 1
Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Histiocytoid cardiomyop... OMIM:309801
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... OMIM:608758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Narrow mouth, Atrial s... ORPHA:280633
Autosomal Recessive Amelia
Micrognathia, Amelia, Acromelia of the lower limbs, Cryptorchidism, Orofacial cleft, Abnormal car... ORPHA:1027
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Anteri... ORPHA:2863
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the dentition, Microretrognathia, Abnormality of the philtrum ORPHA:276422
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Thrombocytosis, Leukocytosis... OMIM:243150
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... OMIM:620210
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Retrognathia, Micrognathia, Narrow mouth,... OMIM:608779
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Foot oligodactyly, Short 5... OMIM:620662
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect ORPHA:79094
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Diabetic Embryopathy
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1926
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, HbH hemoglobin, Diastema, Thick lower lip vermilion, Protruding tongue, Ma... OMIM:301040
Phaver Syndrome
Short thumb, Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary ... ORPHA:2876
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Tr... ORPHA:401935
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Myopathy, Neutropenia, Hepatomegaly,... OMIM:612541
Fliedner-Zweier Syndrome
Long philtrum, Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal ... OMIM:620511
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Chronic noninfectious lymphadenopa... ORPHA:31150
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Rhizomelia, Giant platelets, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidis... OMIM:611209
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Triang... ORPHA:98915
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Knee flexion contracture... ORPHA:3208
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Duodenal atresia, Micrognathia, Median cleft palate, Patent foramen ovale... OMIM:301043
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Intracranial hemor... ORPHA:251274
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... OMIM:616166
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Distal Deletion 15Q
Small hand, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Bicuspid aortic valve,... ORPHA:1596
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Atrial septal d... OMIM:241310
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Anal atresia, Micrognathia DECIPHER:42
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro... OMIM:619472
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat... ORPHA:1923
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Dental crowding, Abnormal heart valve morphology, Mitral valve prolapse, Le... ORPHA:230851
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Microretrognathia, Long philtrum, Tetralogy of Fallot, Atrioventricular canal d... ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Con... OMIM:618223
You-Hoover-Fong Syndrome
Vascular ring, Coarctation of aorta, Double aortic arch, Cleft palate, Accessory oral frenulum OMIM:616954
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Halperin-Birk Syndrome
Micrognathia, Congenital diaphragmatic hernia, High palate, Perimembranous ventricular septal def... OMIM:618651
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Decreased response to... OMIM:618624
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Microretrognathia, Aortic root aneurysm, Long philtrum, Elbow flexion contracture, 11... OMIM:245600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect... ORPHA:466791
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Cryptorchidism, Abnormal palate morphology ORPHA:1381
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Malar flattening, Short ribs, Preductal coarctation of the aorta OMIM:215045
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, Asplen... OMIM:612776
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Cleft soft palate, Micrognathia, Mitral valve prolapse, Vent... OMIM:142900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal heart morphology, Micrognathia, Cryptorchidism, Hypoplasi... OMIM:214110
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Micrognathia, Open mouth, Cryptorchidism, Orofacial... ORPHA:2077
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
Alg3-Cdg
Cardiomyopathy, Abnormality of the endocrine system, Coarctation of the descending aortic arch, M... ORPHA:79321
Digeorge Syndrome
Micrognathia, Ovarian cyst, Ventricular septal defect, High palate, Patent ductus arteriosus, Hig... OMIM:188400
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal fistula, Thyroid... ORPHA:861
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Thromb... ORPHA:101028
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... ORPHA:371428
Pseudotrisomy 13 Syndrome
Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complete atrioventricular canal defect, C... OMIM:264480
Idiopathic Pulmonary Arterial Hypertension
Abnormal jugular vein morphology, Right ventricular hypertrophy ORPHA:275766
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Ischemic stroke, Leukocytosis, Abnormal cerebral artery morphology, Left ventric... ORPHA:90065
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Vici Syndrome
Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Long philtrum, Cleft upper l... OMIM:242840
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ... ORPHA:284984
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Stroke-like episode, Abnormal cardiac atrium morphology, Abnormality of t... ORPHA:563
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Decreased circulating renin level, Ventricular s... OMIM:615474
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Cleft lip, Thick lower lip vermilion, Camptodactyly... OMIM:616920
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Micrognathia, Atrial septal defect, High palate, Camptod... ORPHA:314588
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Long philtrum, Diastema, Open bite, Widely spaced teeth, Thickened aortic ... OMIM:619698
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Mandibular prognathia, Secundum atria... ORPHA:1600
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Stroke, Decreased c... ORPHA:320
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, A... OMIM:300712
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microglossia, Microretrognathia, Short tibia, Short thu... ORPHA:1972
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Atrial septal defect, Cleft palate ORPHA:93946
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Mucolipidosis Type Iii Alpha/Beta
Flexion contracture, Gingival overgrowth, Diastasis recti, Right ventricular hypertrophy ORPHA:423461
Rubinstein-Taybi Syndrome 1
Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atr... OMIM:180849
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Mogs-Cdg
Retrognathia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Ina... ORPHA:79330
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb undergrowth OMIM:613630
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced teeth, Absent cupid's bow,... ORPHA:513456
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Retrognathia, Leukopenia, Cryptorchidism, Ventricular septal defect, Hypodontia, Doub... OMIM:301056
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Prominence of the premaxilla, Double outlet right ventricle, Atrial septal defect... OMIM:614886
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Bicuspid aortic valve, Atrial septal defect, High palate, Patent ductus arteriosus,... OMIM:612474
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Facial hypotonia, Smooth... ORPHA:261311
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia... ORPHA:84064
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal vena cava morphology, Hepatomegaly, Right atrial enlargement, Abnormal jug... ORPHA:1677
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Micrognathia, Mitral val... ORPHA:228410
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Bifid uvula, Dilated cardiomyopathy, Retrognathia, Mi... OMIM:615959
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Absent nipple, Hydrocele te... OMIM:620186
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc... OMIM:312870
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Ventricular... OMIM:300855
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... OMIM:619167
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Retrognathia, Long philtrum, Left ventricular hypertrophy, Atrial septal defect, Eclabion OMIM:620510
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Ferguson-Bonni Neurodevelopmental Syndrome
Micrognathia, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fi... OMIM:619699
Intellectual Developmental Disorder, X-Linked 112
Volvulus, Abnormal heart morphology, Right aortic arch, Cryptorchidism, Bicuspid aortic valve, Pa... OMIM:301111
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Short toe, Duodenal atresia, Short t... OMIM:164280
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... OMIM:618280
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med... ORPHA:2919
Cranioectodermal Dysplasia 2
Micrognathia, Everted lower lip vermilion, Atrial septal defect, Hepatomegaly, High palate, Bile ... OMIM:613610
Fabry Disease
Transient ischemic attack, Ventricular septal hypertrophy, Left ventricular hypertrophy, Delayed ... OMIM:301500
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Mitral valve p... ORPHA:904
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Diprosopus
Cleft palate, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology ORPHA:1681
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septa... OMIM:608572
Oculoauriculofrontonasal Syndrome
Cleft lip, Micrognathia, Narrow mouth, Ventricular septal defect, Broad philtrum, Cleft palate ORPHA:398156
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Ventricular sep... ORPHA:1908
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol... OMIM:613795
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Immunodeficiency 9
Lymphopenia, Recurrent aphthous stomatitis, Myopathy, Hypoplasia of the thymus, Amelogenesis impe... OMIM:612782
Feingold Syndrome Type 1
Interrupted aortic arch, Short thumb, Duodenal atresia, Abnormal heart morphology, Short middle p... ORPHA:391641
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept... ORPHA:567
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Adams-Oliver Syndrome 6
Foot oligodactyly, Splenomegaly, Truncus arteriosus, Ventricular septal defect, Esophageal varix OMIM:616589
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa... OMIM:613680
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Long philtrum, Widely sp... OMIM:617506
Holt-Oram Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de... ORPHA:392
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... ORPHA:3097
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Downturned corners of mouth, Tetralogy of Fallot, Mitral st... ORPHA:163956
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Ventricular se... OMIM:601357
3P25.3 Microdeletion Syndrome
High, narrow palate, Acromesomelia, Mandibular prognathia, Skeletal muscle atrophy, Downturned co... ORPHA:435638
Zechi-Ceide Syndrome
Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Abnormal heart morphology... ORPHA:217017
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal... OMIM:600460
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Cleft upper lip, Abnormal heart morphology, Micrognathia, Narrow... OMIM:239800
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... OMIM:606003
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Ventri... OMIM:612938
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Open mouth, Ventricular septal defect, Everted lower lip vermilion... OMIM:280000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, High, narrow palate, Aortic root aneurysm, Mucoid extracellul... ORPHA:91387
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Dental malocclusion, Gingival overgrowth, Micrognathia, Mitral val... OMIM:249420
Microphthalmia, Syndromic 8
Orofacial cleft, Cleft palate, Widely-spaced maxillary central incisors, Cleft upper lip OMIM:601349
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Visceromegaly, Volvulus, Everted upper lip vermili... OMIM:267000
Oculofaciocardiodental Syndrome
Tooth malposition, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Delayed er... ORPHA:2712
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... OMIM:601005
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Cryptorchidism, Truncus arteriosus, Ventri... OMIM:617516
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hypothyroidism, Double outl... ORPHA:1667
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Dilatation of the cerebral a... ORPHA:365
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Distal Deletion 12Q
High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Annular pancreas, Lo... ORPHA:96149
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Contract... OMIM:300166
De Barsy Syndrome
Delayed eruption of teeth, Prominent veins on trunk, Decreased muscle mass, Narrow mouth, Cryptor... ORPHA:2962
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries, Everted lo... OMIM:616789
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami OMIM:141400
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Hamamy Syndrome
Hypochromic anemia, Dental malocclusion, Long philtrum, Microcytic anemia, Micrognathia, Complete... OMIM:611174
Braddock-Carey Syndrome 1
Small hand, Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Enamel hypo... OMIM:619980
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Fumarase Deficiency
Perimembranous ventricular septal defect, Polycythemia, Necrotizing enterocolitis, High palate OMIM:606812
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Lower limb muscle weakness, Rhabdomyolysis, Skeletal myopathy, Left ventricular h... ORPHA:746
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Bicuspid aortic valve, Atrial sept... OMIM:612289
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricular septal defe... OMIM:615102
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Ventricular septal de... OMIM:619769
Nephrotic Syndrome, Type 11
Cleft lip, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Smooth philtrum, High... OMIM:616730
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Holoprosencephaly 14
Cleft lip, Ventricular septal defect, Median cleft upper lip, Double outlet right ventricle, Aort... OMIM:619895
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Gaucher Disease, Type Ii
Splenomegaly, Anemia, Trismus, Thrombocytopenia, Hepatomegaly, Double aortic arch OMIM:230900
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Noonan Syndrome 9
Coarctation of aorta, Cryptorchidism, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Camptodactyly, Cleft palate, Lobulated tongue OMIM:614815
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Retrognathia, Pancreatic hypoplasia, Contracture of the... ORPHA:83617
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Hypoplasia of the maxilla, Cleft upper lip, Tetralogy of Fallot... OMIM:164210
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Bicu... OMIM:616367
Orofaciodigital Syndrome V
Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Ventricular septal defect, ... OMIM:174300
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Bardet-Biedl Syndrome 1
High, narrow palate, Dental crowding, Abnormality of the ovary, Decreased testicular size, Hypogo... OMIM:209900
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Increased mean corpuscular... OMIM:612562
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Atrioventricular canal defect, Congenital diaphragma... ORPHA:1120
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Patent ductus art... ORPHA:452
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Tetralogy of Fallot, Hamartoma of tongue, Micrognathia, Abse... OMIM:617925
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Hepatosplenomegaly, Hepatomegaly, Left ventricular hypertrophy, Hypothyroi... OMIM:619487
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:609654
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect... OMIM:619123
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Trichorhinophalangeal Syndrome, Type Ii
Carious teeth, Hyperplasia of the maxilla, Bilateral cryptorchidism, Chronic gastritis, Prominent... OMIM:150230
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal... OMIM:617602
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Absent gallbladder, Cryptorchidism, Ventricular septal... ORPHA:163979
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia,... ORPHA:2780
Phace Association
Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Coarcta... OMIM:606519
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Narr... OMIM:202650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial... ORPHA:476126
Mandibuloacral Dysplasia Progeroid Syndrome
Long philtrum, Short femoral neck, Micrognathia, Narrow mouth, Patent foramen ovale, Short philtr... OMIM:619127
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Cryptorchidism, Abnormal cardiac septum mo... ORPHA:250989
Acrocardiofacial Syndrome
Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, T... ORPHA:2008
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an... ORPHA:436252
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Downturned corners of mouth, Retrogna... ORPHA:2409
Warsaw Breakage Syndrome
Tetralogy of Fallot, High palate, Wide mouth, Ventricular septal defect OMIM:613398
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defe... OMIM:617159
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Ventricular septal defect, High palate, Patent ductus arteriosus, Cleft palate ORPHA:52055
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertrophy, Right atrial ... ORPHA:99106
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... OMIM:618901
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Fibular aplasia, Micrognathia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:3320
Ververi-Brady Syndrome
Thin upper lip vermilion, Smooth philtrum, Transposition of the great arteries, Everted lower lip... OMIM:617982
Lymphatic Malformation 5
Cleft palate OMIM:153200
Mucolipidosis Type Ii
Cardiomyopathy, Hepatosplenomegaly, Gingival overgrowth, Diastasis recti, Splenomegaly, Abnormal ... ORPHA:576
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Carious teeth, Dental crowding, Natal tooth, Dental maloccl... ORPHA:353281
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... OMIM:610168
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy, Pancytopenia OMIM:618321
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Persistent left superior vena cava, Tracheoesophage... OMIM:314390
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Hypoplasia of the maxilla, Polysplenia, Tetral... OMIM:201000
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Aase-Smith Syndrome I
Flexion contracture, Open mouth, Cleft palate, Ventricular septal defect OMIM:147800
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Cryptorchidism, Ventricul... ORPHA:457193
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Malar flattening, V... OMIM:613309
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Micrognathia, Splenomegaly, Malar flatte... OMIM:235255
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Kapur-Toriello Syndrome
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Orofacial cleft, Patent d... ORPHA:2328
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Hiatus ... OMIM:618164
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Johnson Neuroectodermal Syndrome
Carious teeth, Tetralogy of Fallot, Hypogonadism, Everted lower lip vermilion, Facial palsy, Clef... ORPHA:2316
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Goiter, Limb... ORPHA:254892
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism... ORPHA:96334
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Transposition of the great arteries, Ectopia co... OMIM:313850
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Bifid uvula, Aortic root aneurysm, Long philtrum,... OMIM:208050
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Dilated cardiomyopathy, Micrognathia, Rhabdomyolysis, Ventricular septal defect, Car... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Pallister-Hall Syndrome
Natal tooth, Distal shortening of limbs, Cryptorchidism, Ventricular septal defect, Anal atresia,... OMIM:146510
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stomac... ORPHA:141127
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Polysplenia, Coronary artery fistula, Tented upper lip vermilion, Congenital dia... OMIM:614294
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aganglion... ORPHA:2473
Histidinemia
Hyperactivity ORPHA:2157
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Pa... OMIM:153400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
Chime Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle,... ORPHA:3474
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Inflammation of the large intestine, Abnormal eosinophil morpholog... ORPHA:906
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Micrognathia, Hip contracture, Ventricular s... OMIM:619503
Enlarged Parietal Foramina
Cleft lip, Venous malformation, Abnormal cerebral vein morphology, Short clavicles, Cleft palate ORPHA:60015
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Conotruncal defect, Prot... ORPHA:96147
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Congenital diaphragmatic hernia, ... ORPHA:1780
Zimmermann-Laband Syndrome 1
Short distal phalanx of finger, Mandibular prognathia, Aortic root aneurysm, Downturned corners o... OMIM:135500
Kawasaki Disease
Vasculitis, Strawberry tongue, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:2331
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Cl... ORPHA:508488
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Congenital diaphragmatic hernia, Adrenal gland agenesis, Ventricular septal defect, Pu... OMIM:611812
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding tongue, Malar flattenin... OMIM:610253
Fabry Disease
Thick lower lip vermilion, Hypertrophic cardiomyopathy, Transient ischemic attack, Abnormal aorti... ORPHA:324
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept... ORPHA:353277
Robinow Syndrome, Autosomal Dominant 3
Mesomelia, Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly... OMIM:616894
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Everted lower lip vermilion,... OMIM:619534
Eec Syndrome
Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Decreased response ... ORPHA:1896
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Toriello-Carey Syndrome
Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnorm... ORPHA:3338
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Anteriorly placed anus, ... ORPHA:1708
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... OMIM:618748
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral atresia... OMIM:220111
Doors Syndrome
Short lingual frenulum, Open mouth, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of t... ORPHA:79500
Leopard Syndrome 1
Mandibular prognathia, Hypertrophic cardiomyopathy, Delayed menarche, Complete atrioventricular c... OMIM:151100
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal ... ORPHA:1507
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Tented upper lip vermilion, EMG: myopathic abnormalities... ORPHA:280200
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Bifid uvula, Vertebral artery aneurysm, Broad uvula, Arterial tortuosity... OMIM:619656
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diab... ORPHA:563609
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy, Perianal dermatitis, Chapped lip, Anal fissure ORPHA:294023
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr... ORPHA:3310
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... OMIM:301022
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Narrow mouth, Complete ... OMIM:617063
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal aortic morpho... ORPHA:2396
Mycophenolate Mofetil Embryopathy
Tessier cleft, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctat... ORPHA:268249
Robinow Syndrome
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Cryp... ORPHA:97360
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Atrial septal defect, Small... OMIM:105650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Microglossia, Exaggerated median tongue furrow, ... OMIM:608670
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Elbow flexion con... OMIM:117650
Cardiospondylocarpofacial Syndrome
Long philtrum, Muscular ventricular septal defect, Decreased testicular size, Congenital diaphrag... OMIM:157800
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Gingival overgrow... ORPHA:96191
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max... ORPHA:2751
Coffin-Siris Syndrome 4
Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi... OMIM:614609
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:2745
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Secundum atrial septal defect, Downturned corners of mouth, Long philtr... OMIM:264090
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, 11 pairs o... OMIM:620025
Faciocardiorenal Syndrome
Endocardial fibroelastosis, Narrow mouth, Tricuspid valve prolapse, Hypodontia, Smooth philtrum, ... ORPHA:1973
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal d... OMIM:154400
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Dental crowding, Tortuous cerebral arteries,... OMIM:619329
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Micrognathia, ... ORPHA:3047
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Long philtrum, Micrognathia, Patent foramen ovale, Ventricular septal... OMIM:619268
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of th... OMIM:300989
Distal Deletion 19P
Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... ORPHA:96129
Charge Syndrome
Interrupted aortic arch, Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the zygomatic ... ORPHA:138
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Micrognathia, Complete atrioventricular canal defect, V... OMIM:236680
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Aortic dissection, Arterial tortuosity, Camptodactyly of finger... ORPHA:60030
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a... OMIM:175050
X-Linked Intellectual Disability, Armfield Type
Small hand, Mandibular prognathia, Downturned corners of mouth, Micrognathia, Cryptorchidism, Abn... ORPHA:85276
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Stomach cancer, Intestinal polyposis, Abnormal aortic morphology, Micrognathi... ORPHA:1052
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Bicuspi... OMIM:609192
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Supernumerary nipple, Tetralogy o... OMIM:100300
Monosomy 22
Contractures of the large joints, Long philtrum, Retrognathia, Hepatosplenomegaly, Open mouth, Ap... ORPHA:96123
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Hypoplastic aortic arch, Open mouth ORPHA:457284
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Median cleft upper lip, H... OMIM:617088
Femoral-Facial Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Aplasia/hypoplasia of the femur, Patent ... OMIM:134780
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia, Phocomelia ORPHA:3004
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Hypoplasia of the thymus, Rectal atresia, Anal atresia OMIM:617666
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger... ORPHA:306542
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Micro... ORPHA:84
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Micrognathia, Type ... OMIM:619036
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal dental morphol... ORPHA:217085
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Hamartoma of tongue, Micrognat... OMIM:615948
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal dental morphol... ORPHA:217093
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... ORPHA:580
Treacher Collins Syndrome 1
Abnormal heart morphology, Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Crypt... OMIM:154500
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Restrictive Dermopathy
Microcolon, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Micrognathia... ORPHA:1662
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemol... OMIM:102700
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Micrognathia, Gastrointestinal angiodyspla... ORPHA:99226
Neu-Laxova Syndrome 1
Joint contracture of the hand, Micromelia, Cleft upper lip, Thick lower lip vermilion, Micrognath... OMIM:256520
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Long philtr... OMIM:614976
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Long philtrum, Camptodactyly of finger, Abnormal heart ... ORPHA:1606
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem... ORPHA:83471
Vater/Vacterl Association
Short thumb, Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposi... OMIM:192350
Proteus Syndrome
Carious teeth, Arteriovenous malformation, Thymus hyperplasia, Decreased muscle mass, Tooth agene... ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ap2b1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ap2b1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A conditional knockout resource for the genome-wide study of mouse gene function. Nature (June 2011) Ap2b1tm1a(KOMP)Wtsi PMC3572410

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ap2b1tm357351(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ap2b1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ap2b1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap2b1em1(IMPC)J Exon Deletion Mice

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