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Gene: Pitx2 MGI:109340

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Gene Summary

Name:
paired-like homeodomain transcription factor 2
Synonyms:
Otlx2,  Brx1b,  Brx1a,  Brx1,  solurshin,  Ptx2,  Pitx2c,  Pitx2b,  Pitx2a,  Munc30,  Rieg

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
prenatal lethality Pitx2tm1b(EUCOMM)Wtsi HOM   E18.5 0.00
abnormal optic disk morphology Pitx2tm1b(EUCOMM)Wtsi HET Early adult 7.33×10-16
enlarged heart Pitx2tm1b(EUCOMM)Wtsi HET Early adult 0.00
corneal opacity Pitx2tm1b(EUCOMM)Wtsi HET Early adult 1.20×10-12
irregularly shaped pupil Pitx2tm1b(EUCOMM)Wtsi HET Early adult 7.21×10-06
abnormal tooth morphology Pitx2tm1b(EUCOMM)Wtsi HET Early adult 1.03×10-08
preweaning lethality, complete penetrance Pitx2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
small testis Pitx2tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased grip strength Pitx2tm1b(EUCOMM)Wtsi HET Early adult 1.04×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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Echo

M-Mode Images

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Pitx2 mutations

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

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

The table below shows human diseases predicted to be associated to Pitx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Tooth Agenesis, Selective, 3
Oligodontia, Microdontia OMIM:604625
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy OMIM:613690
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Cardiomyopathy OMIM:613874
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Cardiomyopathy OMIM:613876
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Isolated Ectopia Lentis
Mandibular prognathia, Ectopia lentis, Cataract, Ectopia pupillae, Malar flattening ORPHA:1885
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Dental malocclusion, Persistence of primary teeth, Ectopia pupill... OMIM:618727
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Ocular hypertension OMIM:618880
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Hypodontia, Hypoplasia of the iris, Ectopia pupillae, Microdontia, Malar f... OMIM:602482
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of... OMIM:612474
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia, Ocular hypertension OMIM:613517
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Ocular hypertension, Iris neov... ORPHA:94058
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden cardiac death, Right bu... OMIM:224700
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Mitral regurgitation, Hype... OMIM:615248
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:601494
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Anisocoria
Anisocoria OMIM:106240
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Left... OMIM:604169
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Nathalie Syndrome
Arrhythmia ORPHA:2663
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anop... OMIM:611638
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Facial Spasm
Anisocoria OMIM:134300
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 36
Cataract OMIM:613887
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Distal Monosomy 6P
Abnormal anterior chamber morphology, Short philtrum, Atrial septal defect, Underdeveloped nasal ... ORPHA:96125
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... ORPHA:2184
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, White eyelashes, Generalized hypopigmentation, Blu... OMIM:103500
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Cataract, Peripapillary atrophy, Abnormal flash visual evoked potentials, O... OMIM:618195
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Death in infancy, Patent d... ORPHA:1120
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Abnormality of the philtrum, Patent ductus ar... ORPHA:2863
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
White Forelock With Malformations
Bronchomalacia, Prominent veins on trunk, Atrial septal defect OMIM:277740
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnorma... ORPHA:1926
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Microcornea, Corneal opacity ORPHA:2432
Syngnathia
Cleft palate OMIM:119550
Cat Eye Syndrome
Chorioretinal coloboma, Abnormal heart morphology, Biliary atresia, Iris coloboma, Intestinal mal... OMIM:115470
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79405
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Cataract, Microcornea, Microphthalmia, High palate, Retrognathia ORPHA:2528
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Ectopia lentis, Iris atrophy, Microphthalmia, Retrognathia OMIM:601552
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Ectopia pupillae, Pulmonic stenosi... OMIM:618223
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Ocular hypertension, Microcornea OMIM:602499
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Dental crowding, Shovel-shaped maxillary central incisors, Subcapsular catarac... OMIM:600907
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Dextrocardia, Right aortic arch OMIM:617577
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Intellectual Disability-Alacrima-Achalasia Syndrome
Deep philtrum, Anisocoria ORPHA:289483
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Intestinal malro... ORPHA:3426
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Abnormal heart morphology, Patent ductus arteriosus, ... OMIM:618164
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Wide nose, ... ORPHA:1727
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, Howell-Jolly bodies, P... OMIM:613759
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Nance-Horan Syndrome
Mulberry molar, Developmental cataract, Posterior Y-sutural cataract, Diastema, Screwdriver-shape... OMIM:302350
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Mucous Membrane Pemphigoid
Gingivitis, Corneal opacity, Oral mucosal blisters ORPHA:46486
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Prolonged PR interval, Atrial fibrillation OMIM:108900
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocor... OMIM:269400
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Deeply set eye, Abnormality of the ribs, Tetralogy of Fallot, Hypot... ORPHA:276422
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Cardioacrofacial Dysplasia 2
Hypertelorism, Narrow chest, Long thorax, Left superior vena cava draining to coronary sinus, Atr... OMIM:619143
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Persistent pupillary membrane, Thin vermilion border, Abnormal dental enamel morph... OMIM:257850
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Catel-Manzke Syndrome
Cystic hygroma, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Umbilical hernia... OMIM:616145
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... OMIM:314390
Cardiac-Urogenital Syndrome
Cryptorchidism, Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defe... OMIM:618280
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Bulbous nose, Patent foramen ovale, Short neck, Transposition of th... OMIM:616789
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ane Syndrome
Abnormal response to ACTH stimulation test, Carious teeth, Adrenocorticotropin deficient adrenal ... ORPHA:157954
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Ocular hyperte... OMIM:610023
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent duc... OMIM:618316
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... ORPHA:294975
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimuation ... OMIM:220210
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Omphalocele, Wide nasal b... ORPHA:93267
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia, Cleft palate OMIM:257910
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Dermoids Of Cornea
Corneal opacity OMIM:304730
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regurgitation, Pulmonary... ORPHA:99103
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Periventricular Nodular Heterotopia 7
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, C... OMIM:617201
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Bulbous nose, Cleft palate OMIM:260150
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
8P23.1 Microdeletion Syndrome
Cryptorchidism, Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal brid... ORPHA:251071
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:234810
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Micrognathia, Prominent nose OMIM:221950
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Thick lower lip ver... OMIM:179613
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Narrow chest, Abnormal mitral valve morphology, Abnormal tricuspid valve mo... ORPHA:1354
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic steno... ORPHA:3304
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Atrial fibrillation, Aortic regurgitation, Left ventricular outflow tract ... OMIM:614980
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... OMIM:182230
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Pulmonary arterial hypertension, Fixed splitting of the ... ORPHA:99106
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:212550
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Short Syndrome
Abnormal dental enamel morphology, Posterior embryotoxon, Abnormality of the zygomatic bone, Corn... ORPHA:3163
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Culler-Jones Syndrome
Cryptorchidism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Hypopituitarism, Clef... OMIM:615849
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Unilateral vertebral artery hypoplasia, Dextrocardia, Spina bifida occult... OMIM:613686
Triploidy
Macroglossia, Narrow mouth, Iris coloboma, Omphalocele, Intestinal malrotation, Non-midline cleft... ORPHA:3376
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia