Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E18.5

Images

8 Images

Gross Morphology Placenta E18.5

Images

2 Images

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
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Syngnathia
Cleft palate OMIM:119550
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Torus Palatinus And Torus Mandibularis
Abnormality of the mouth, Torus palatinus OMIM:189700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Cleft upper lip, Cleft pa... OMIM:231060
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Immunodeficiency 8
Hyperactivity OMIM:615401
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia OMIM:261800
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Dextrocardia, Cle... OMIM:616145
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Torticollis, C... OMIM:617022
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmoni... ORPHA:3304
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Mandib... ORPHA:1110
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin... OMIM:601927
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... OMIM:617877
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... OMIM:604381
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Facial palsy, Cleft palate, H... OMIM:147770
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Hypothyroidism, Dextrocardia, Right aortic arch OMIM:617577
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Upper limb phocomelia, Abnormal heart morphology, ... ORPHA:294975
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart ... ORPHA:477817
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Classic Multiminicore Myopathy
Increased muscle lipid content, Microretrognathia, Congenital muscular dystrophy, High palate, Ma... ORPHA:324604
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypo... ORPHA:3426
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arte... ORPHA:363444
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Hypoplasia of the thymus, Median cleft pal... ORPHA:40366
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Mic... OMIM:179613
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Abnormal macrophage morphology, Inc... ORPHA:353
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Interrupted aortic arch, Ventricul... OMIM:192430
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Short distal phalanx of finger, Right ventricula... OMIM:614261
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Tooth agenes... ORPHA:1166
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Patent ductus arteriosus, Thin upper lip vermilion, Right ventricular hypertrophy,... OMIM:613623
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Micrognathia, Malar flatte... OMIM:241310
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Smooth phil... ORPHA:1727
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Unilatera... ORPHA:1919
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, Abnormal heart valve morphology, Centrally nucleated skeletal mus... ORPHA:169186
Hypoplastic Left Heart Syndrome
Atrial septal defect, Maternal diabetes, Mitral atresia, Patent ductus arteriosus, Hypoplastic ao... ORPHA:2248
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Cryptorchidism, Atrial septal defect, Truncus arte... OMIM:601186
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Macrocytic anemia, Persistence of hemoglobin F, Ve... OMIM:612561
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Left ventricular hypertrophy, Cardiomyopathy OMIM:613873
Sprengel Deformity
Cleft palate ORPHA:3181
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Parc Syndrome
Cleft palate OMIM:600331
Tangier Disease
Atherosclerosis, Coronary artery atherosclerosis, Hepatomegaly, Distal amyotrophy, Left ventricul... OMIM:205400
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Mandibular prognathia, Left ventricu... OMIM:619040
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Smooth philtrum, Short foot, Th... OMIM:611209
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Tooth agenesis, Microgna... ORPHA:1277
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Cl... ORPHA:2306
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Nephrogenic diabetes insipidus, Ventric... OMIM:208085
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, High palate, Everted lower lip vermilion,... ORPHA:261120
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Right ventricular hype... OMIM:178600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Hamartoma of tongue, Subvalvular ao... OMIM:217085
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Sandestig-Stefanova Syndrome
Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal ... OMIM:618804
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmon... OMIM:618316
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Sotos Syndrome 3
Hyperactivity OMIM:617169
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... OMIM:618021
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Intestinal malrotation, Dextrocardia, Double outlet right ve... OMIM:605376
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, Flex... OMIM:613156
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... OMIM:612541
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Short distal phalanx o... ORPHA:2516
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... OMIM:249670
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Exaggerated cupid... OMIM:618619
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... ORPHA:251076
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Smooth philtrum, Thin upper lip vermilion, Cleft palate, Malar flattening OMIM:611867
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Apert Syndrome
Delayed eruption of teeth, Cryptorchidism, Narrow palate, Ventricular septal defect, Mandibular p... OMIM:101200
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Noonan Syndrome 8
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmon... OMIM:615355
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Thin vermilion border ORPHA:3303
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral syne... ORPHA:1388
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Pulmonic stenosis, Perimembranous ventricular septal... OMIM:611376
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Pulmonary ... OMIM:265380
Cantu Syndrome
Short hallux, Long philtrum, Pericardial effusion, Patent ductus arteriosus, Thick upper lip verm... OMIM:239850
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Arthrogryposis multiplex congenita, Right ventricular hypertrophy... OMIM:613404
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Fetal Minoxidil Syndrome
Cryptorchidism, Micrognathia, Ventricular septal defect ORPHA:1918
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation... OMIM:243150
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Left ventricular hyper... OMIM:608751
Maternal Phenylketonuria
Long philtrum, Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Double o... ORPHA:2209
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Aortic ... OMIM:267010
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Left ventricular hypertrophy OMIM:613838
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Truncus arteriosus, Ventricular septal defect OMIM:601355
Fryns Syndrome
Long philtrum, Cryptorchidism, Abnormal aortic arch morphology, Abnormal aortic morphology, Intes... ORPHA:2059
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Absent gallbladder, Hypoplasia of the ulna, Oral cleft, Aplasia/Hypopla... ORPHA:3186
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Intestinal malrotation, Bilateral cleft lip and palate, Patent ductus... ORPHA:2001
Cardioacrofacial Dysplasia 1
Short philtrum, Complete atrioventricular canal defect, Diastema, Conical tooth, Limb undergrowth... OMIM:619142
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Thick lower lip ve... OMIM:608227
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Diabetes mellitus, Left ventricular hypertrophy OMIM:540000
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Adams-Oliver Syndrome 5
Esophageal varix, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hyp... OMIM:616028
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Delayed eruption of teeth, Short philtrum, Cryptorchidism, Open mouth, Mic... OMIM:619148
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia, Conotruncal defect OMIM:243440
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Ventricular septal hypertrophy, Hype... OMIM:608758
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Narrow mouth, Open mouth, Dental crowding, Patent ductus arteriosus, Delayed pube... OMIM:300967
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Myopathy, Centronuclear, 5
Narrow mouth, Facial palsy, Hip contracture, Dilated cardiomyopathy, High palate, Retrognathia, M... OMIM:615959
Digeorge Syndrome
Right aortic arch with mirror image branching, Short philtrum, Decreased circulating parathyroid ... OMIM:188400
Endocardial Fibroelastosis
Cryptorchidism, Endocardial fibroelastosis, Abnormal palate morphology, Restrictive cardiomyopath... ORPHA:2022
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Diaphragmatic eventration, Abnormal heart morphology OMIM:600252
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Tetralogy of Fallot, Micrognathia, ... ORPHA:1913
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Mandibular prognathia, Ec... ORPHA:94066
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Noonan Syndrome 10
Cryptorchidism, Atrial septal defect, Ventricular septal defect, High palate, Patent ductus arter... OMIM:616564
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Congenital Aortic Valve Stenosis
Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Thoracic aortic aneurysm, Aortic ... ORPHA:3093
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Abnormality of the philtrum, ... ORPHA:2863
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Autosomal Recessive Amelia
Cryptorchidism, Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft... ORPHA:1027
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Cryptorchidism, Narrow mouth, Patent ... OMIM:615502
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:444013
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular hypertrophy OMIM:265400
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Micrognathia OMIM:228940
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Hypochromic microcytic anemia, Absent frontal sinuses, Ventricular ... OMIM:301040
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... OMIM:600987
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy OMIM:616733
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Solitary median maxillary central incisor, M... OMIM:301043
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... OMIM:614326
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Tangier Disease
Orange discolored tonsils, Facial diplegia, Accelerated atherosclerosis, Coronary artery stenosis... ORPHA:31150
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Anal atresia, U-Shaped ... OMIM:612946
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Ectopic anus,... ORPHA:2476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Narrow mouth, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, T... ORPHA:280633
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Short palm, Ventricular septal defect ORPHA:79094
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality ... ORPHA:1926
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Short thumb, Coarcta... ORPHA:2876
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defec... ORPHA:401935
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Anal atresia, Congenital diaphragmatic hernia, O... OMIM:309801
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Cleft palate, Retrognathia, Micrognathia, Meso... OMIM:249710
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Mandibular prognathia, Type 1 muscle fiber predominance, ... ORPHA:98915
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Left ven... OMIM:615474
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, High palate, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic... OMIM:616166
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
X-Linked Intellectual Disability, Hedera Type
Drooling, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Premature sternal synostosis, Abnormal heart morphology, Short sternum, Micrognathia OMIM:184800
Methimazole Embryofetopathy
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Esophageal atresia, Abnorm... ORPHA:1923
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hern... OMIM:615524
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Truncus arteriosus, Ventricular septal defect, Microretrognathia, Coarctation of a... ORPHA:508498
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Thick vermilion border, Perimembranous ventricular septal defect, Congenital... OMIM:618651
Cat-Eye Syndrome (Type I)
Micrognathia, Anal atresia, Abnormal heart morphology DECIPHER:42
Adducted Thumbs Syndrome
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Hashimoto thyroiditis, Pulmonic st... OMIM:618223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Polysplenia... ORPHA:244
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... ORPHA:261183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Tetralogy of Fallot, Anal atresia, Abnormal palate morphology ORPHA:1381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, Polysplenia, Hypodontia, Microglossia, Asplenia, High palat... OMIM:612776
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
German Syndrome
Camptodactyly of finger, Cryptorchidism, Arthrogryposis multiplex congenita, Open mouth, Everted ... ORPHA:2077
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Thin upper lip vermilion, Ca... OMIM:601005
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Hepatomegaly, Hypoplasia of the thymus,... OMIM:214110
Distal Monosomy 15Q
Cryptorchidism, Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Short dis... ORPHA:1596
Vici Syndrome
Decreased proportion of CD4-positive helper T cells, Left ventricular hypertrophy, Cleft upper li... OMIM:242840
Craniofacioskeletal Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal... OMIM:300712
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Micrognathia, Aortic aneurysm, Myxom... OMIM:130090
Aortic Aneurysm, Familial Thoracic 10
Dental crowding, Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Hi... OMIM:617168
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Dental crowding, Abnormal heart valve morphology, High pala... ORPHA:230851
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteriosus, Hypoplasia o... ORPHA:1972
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Polycystic ovaries, Double... ORPHA:371428
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation of aorta, ... ORPHA:101028
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Ventricular septal defect, Micrognathia, Contractures of the joints o... ORPHA:513456
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Ventricular septal defect OMIM:618506
Idiopathic Pulmonary Arterial Hypertension
Abnormal jugular vein morphology, Right ventricular hypertrophy ORPHA:275766
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Long philtrum, Atrial septal defect, Narrow mouth, Micrognathia, Rhizomelia, Microretrognathia, 1... OMIM:245600
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Lower limb hypertonia, Skeletal myopathy, Distal amyotrophy, Left v... ORPHA:3208
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Everted lower lip ve... OMIM:616920
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal muscle weakness in upper l... ORPHA:268
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Smooth philtrum, Thin upper lip vermilion, Cleft palate, Hypoplast... OMIM:301022
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... OMIM:608572
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Cryptorchidism, Adrenal hyp... OMIM:264480
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Arterial tortuosity, Abnormal heart morphology, High palate, Patent duct... ORPHA:284984
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arterio... ORPHA:861
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Li-Campeau Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, P... OMIM:619189
Noonan Syndrome 12
Ventricular septal defect, Lymphopenia, Thrombocytopenia, 11 pairs of ribs, Tetralogy of Fallot, ... OMIM:618624
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Cleft palate ORPHA:1681
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent ... OMIM:239711
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Flexion contrac... ORPHA:314588
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Pentasomy X
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Delayed puberty, Short foot, Abnor... ORPHA:11
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypothyroidism, Hypopituitarism, Abnormal cerebral artery morphology, Left ventricu... ORPHA:90065
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225000
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Hypot... ORPHA:84064
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Left ventricular hypertrophy, Glucocortocoid-ins... ORPHA:251274
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Dental crowding, Decreased testicular s... OMIM:209900
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Cleft palate, Micrognathia, Malar flattening ORPHA:93946
Monosomy 18Q
Short philtrum, Left aortic arch with right descending aorta and right ductus arteriosus, Open mo... ORPHA:1600
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Open mouth, Dental crowding, Patent ductus arteriosus, Anterior pituitary hypopla... ORPHA:466791
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Cranioectodermal Dysplasia 2
Atrial septal defect, Rhizomelia, Everted lower lip vermilion, Polysplenia, Patent ductus arterio... OMIM:613610
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Tetralogy of Fallot, Hypoplasia of the odontoid process, Micromelia ORPHA:93315
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Short ribs, Microglossia, Cleft palate, Micrognathia, Anterior hypopit... OMIM:241800
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Ventricular septal defect, Hypodontia, Hepato... OMIM:301056
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Diastasis recti, Ventricular septal defect,... OMIM:248950
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, High ... OMIM:613795
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, High... ORPHA:2919
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
20Q13.33 Microdeletion Syndrome
Thin vermilion border, Atrial septal defect, Facial hypotonia, Smooth philtrum, Hypoplastic aorti... ORPHA:261311
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Cleft palate OMIM:221950
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Cholelithiasis, Atrial septal defect OMIM:614886
Oculoauriculofrontonasal Syndrome
Narrow mouth, Ventricular septal defect, Cleft lip, Cleft palate, Broad philtrum, Micrognathia ORPHA:398156
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Left ventricular hypertrophy, Patent foramen ovale, Left ve... OMIM:619167
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Hyp... OMIM:600123
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Perlman Syndrome
Cryptorchidism, Interrupted aortic arch, Open mouth, Long upper lip, Visceromegaly, Hypoplasia of... OMIM:267000
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Polyvalvular Heart Disease Syndrome
Short philtrum, Dental crowding, Abnormal heart valve morphology, High palate, Pulmonic stenosis,... ORPHA:228410
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Abnormal aortic morphology, Patent ductus arteriosus, Abno... ORPHA:251071
Peripartum Cardiomyopathy
Abnormal atrioventricular valve morphology, Left atrial enlargement, Left ventricular hypertrophy... ORPHA:563
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Short middle phalanx of fi... ORPHA:391641
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Intestinal malrotation, Congenital hypothyroidism, Pancreatic hypoplasi... ORPHA:2255
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Crypt... OMIM:609029
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, High palate, Retrognat... OMIM:618142
Transaldolase Deficiency
Thin vermilion border, Atrial septal defect, Short philtrum, Ventricular septal defect, Deep phil... OMIM:606003
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Mandibular prognathia, Short distal phalanx of ... OMIM:135500
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Camptodactyly, Wide mouth, Double o... OMIM:249420
Williams Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal carotid artery morphology, Abnormal dental ena... ORPHA:904
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Wide mouth, Ventricular septal defect OMIM:613398
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cle... OMIM:600460
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Non-midline ... ORPHA:1908
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Difficulty in tongue movements, Bas... ORPHA:365
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Patent ductus arteriosus, Sideroblastic anemia, Ventricular septal defect OMIM:617021
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Myeloproliferative disorder, Complete atrioventricul... OMIM:190685
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Thrombocytopenia, Eosinophilia,... OMIM:603554
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618652
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Polysplenia, Abnormal perica... ORPHA:1335
Distal Monosomy 12Q
Long philtrum, Maturity-onset diabetes of the young, Annular pancreas, Micrognathia, Short middle... ORPHA:96149
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Ventricular septal defect, De... ORPHA:163956
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot, Retrognathia, M... OMIM:617926
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Patent ductus art... ORPHA:567
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Atrial septal defect, Open mouth, Dental crowding, Ventricular septal defect, Mic... OMIM:309520
Recombinant 8 Syndrome
Camptodactyly of finger, Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventr... ORPHA:96167
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
3P25.3 Microdeletion Syndrome
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Mic... ORPHA:435638
Microphthalmia, Syndromic 8
Oral cleft, Widely-spaced maxillary central incisors, Cleft upper lip, Cleft palate OMIM:601349
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypo... OMIM:300400
Char Syndrome
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... ORPHA:46627
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding ton... OMIM:612938
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Fused teeth, Delayed eruption of teeth, Tooth malposition, Abnormal p... ORPHA:2712
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Skeletal myopathy, Left ventricular hypertrophy, Hypo... ORPHA:746
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Narrow mouth, Micrognathia, Contracture of the distal i... ORPHA:83617
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Camptodactyly, P... OMIM:300963
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Short humerus, Anal atresia, Absent radius, Atrioventricular canal defect, Trach... OMIM:314390
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Fontaine Progeroid Syndrome
Cryptorchidism, Oligodontia, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Short... OMIM:612289
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Mitral valve calcification, Left ventricular hype... ORPHA:99877
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Thin vermilion border, Short philtrum, Abnormal heart morphology, Dental crowding, Micrognathia, ... OMIM:618343
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Open mouth, Everted lower lip vermilion, Wide mouth, Patent foramen... OMIM:616789
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft upper lip, Cleft palate, Tetralogy of ... OMIM:153400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Difficulty in tongue movements, Hepatomegaly, Left ventricular hy... ORPHA:308552
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Hypothyroidism, Central hypothyroidi... ORPHA:1667
Giant Cell Arteritis
Glossitis, Pericarditis, Impaired mastication, Double outlet right ventricle with subpulmonary ve... ORPHA:397
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Diamond-Blackfan Anemia 10
Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Congenital diaphragmatic ... OMIM:613309
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Narrow mouth, Aglossia, Microglossia, Cleft palate, M... OMIM:202650
Nephrotic Syndrome, Type 11
Ventricular septal defect, Smooth philtrum, Cleft lip, Cleft palate, Dilated cardiomyopathy, High... OMIM:616730
Hemifacial Microsomia With Radial Defects
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami OMIM:141400
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Dental crowding, Ventricular septal defect, ... OMIM:617602
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Microphthalmia, Syndromic 2
Cryptorchidism, Oligodontia, Patent ductus arteriosus, Dextrocardia, Double outlet right ventricl... OMIM:300166
Fabry Disease
Delayed puberty, Anemia, Left ventricular hypertrophy, Ventricular septal hypertrophy OMIM:301500
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Cat Eye Syndrome
Abnormal heart morphology, Micrognathia, Intestinal malrotation, Anal atresia, Absent radius, Cle... OMIM:115470
De Barsy Syndrome
Delayed eruption of teeth, Cryptorchidism, Decreased muscle mass, Prominent veins on trunk, Narro... ORPHA:2962
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal... ORPHA:2847
Adams-Oliver Syndrome 6
Foot oligodactyly, Truncus arteriosus, Esophageal varix, Ventricular septal defect OMIM:616589
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Natal tooth, Hamartoma of tongue, Sho... OMIM:617925
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Hypertelorism, Microtia, Facial Clefting Syndrome