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Gene: Edn1 MGI:95283

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
endothelin 1
Synonyms:
ET-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Edn1 mutations

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

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

The table below shows human diseases associated to Edn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Question Mark Ears, Isolated
Hearing abnormality, Question mark ear OMIM:612798

The table below shows human diseases predicted to be associated to Edn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... ORPHA:505395
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Aganglionic megacolon, Decreased he... OMIM:209880
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... ORPHA:79113
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Short neck, Cleft palate ORPHA:2015
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cleft palate, Glossopto... ORPHA:1388
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... OMIM:602483
Branchiooculofacial Syndrome
Short neck, Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Facial palsy... OMIM:113620
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... OMIM:618222
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition ORPHA:3104
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia ORPHA:141152
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami OMIM:141300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment... ORPHA:1131
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ... ORPHA:423
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... ORPHA:166100
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... ORPHA:2302
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Short neck, ... OMIM:619110
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormality of the shoulder gi... ORPHA:3181
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, Cleft of chin, Cleft palate, Narrow palate, M... OMIM:101400
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Non-midline cleft lip, Sensorineural hearing impairment, ... ORPHA:2549
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Short neck, Micrognathia, Narrow mouth, Whistling appearance, Trism... OMIM:277720
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co... OMIM:217150
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Facial palsy, Hypercapnia, Reduced forced v... OMIM:164310
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... ORPHA:70588
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Branchial cyst, Dental crowding, Ankle flexion c... ORPHA:435938
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly ORPHA:1296
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Permanent Molars, Secondary Retention Of
Mandibular prognathia, Abnormality of the dentition OMIM:157950
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology OMIM:618960
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f... OMIM:113650
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Short neck, Cardiomegaly OMIM:617022
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Cleft palate, High... OMIM:618388
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Furrowed tongue, Low posterior h... ORPHA:1387
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn... ORPHA:79138
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Brooke-Spiegler Syndrome
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the neck... ORPHA:79493
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate, Micrognathia OMIM:243440
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, P... OMIM:612387
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex congenita, Nemaline bodies OMIM:615731
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, Posteriorly rotated ears, Short neck, Micrognathia, H... ORPHA:2789
Autosomal Dominant Prognathism
Open bite, Everted lower lip vermilion, Mandibular prognathia ORPHA:2964
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... OMIM:618761
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... OMIM:608257
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... ORPHA:3236
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... ORPHA:178320
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia OMIM:249710
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Abnormality of the mi... ORPHA:949
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Arthrogryposis multiplex congenita, Cleft palate, Micrognathia OMIM:616570
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft p... ORPHA:916
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmonic stenosis, A... OMIM:179613
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchid... ORPHA:1752
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Low posterior hairline, Hypoplastic lef... OMIM:220210
Multiple System Atrophy
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... ORPHA:102
Lowry-Maclean Syndrome
Delayed eruption of teeth, Diaphragmatic eventration, Cleft palate OMIM:600252
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Tel... ORPHA:2038
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... OMIM:620107
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia OMIM:183700
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Absence Of The Pulmonary Artery
Orthopnea, Abnormal EKG, Cyanosis, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Non... ORPHA:980
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens... ORPHA:79126
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... OMIM:613717
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... OMIM:618164
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Sensorineural hearing im... OMIM:158900
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Respiratory insufficiency, Hypertension, Abnormal autonomic nerv... ORPHA:97229
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchid... ORPHA:1703
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Congenital Myopathy 13
Hypoxemia, Restrictive ventilatory defect, Hypercapnia OMIM:255995
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Micrognathia, Gingival overgrowth, Cleft palate, Protruding ear, Macrotia ORPHA:2013
Multiple System Atrophy, Parkinsonian Type
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... ORPHA:98933
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con... ORPHA:861
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... ORPHA:99772
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Hypertrophic cardiomyopathy, Abnor... ORPHA:330001
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Hypoxemia, Restrictive ventilatory defe... ORPHA:2902
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Maxillofacial Dysostosis
Mandibular prognathia, Abnormal pinna morphology OMIM:155000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Webbed neck, Atrial ... OMIM:618316
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... OMIM:613604
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Thickened nuchal skin fold, Cleft palate, Micrognathia ORPHA:1779
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration, Cardia... ORPHA:168593
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Intellectual Developmental Disorder, Autosomal Recessive 48
Mandibular prognathia, Macrotia, Long philtrum OMIM:616269
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Short neck, Cleft palate, Long philtrum, Retrognathia OMIM:615583
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck ORPHA:2001
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Noonan Syndrome 9
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck OMIM:616559
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Lateral Meningocele Syndrome
Decreased muscle mass, Dental crowding, Posteriorly rotated ears, Short neck, Micrognathia, Crypt... OMIM:130720
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... OMIM:141400
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta ORPHA:101028
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:776
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Cryptorchidism... ORPHA:2471
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia ORPHA:93950
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... OMIM:618021
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Thin vermilion border, ... ORPHA:2631
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Treacher Collins Syndrome 4
Conductive hearing impairment, Malar flattening, Cleft palate, Micrognathia OMIM:618939
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft uppe... ORPHA:915
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Abnormal autonomic nervo... ORPHA:3299
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Phenobarbital Embryopathy
Mandibular prognathia, Malar flattening, Unilateral cleft lip, Low-set ears ORPHA:1919
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft pala... OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Smooth philtrum, Widely-spac... OMIM:618737
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormality of the neck, Abnor... ORPHA:1926
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia, Retrognathia, ... OMIM:616462
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Abnormal s... ORPHA:314652
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Thin upper lip vermilion, Prominent crus of helix, Broad chin, Abnormality... OMIM:301013
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Abnormal pinna morphology, Abnormality of the dentiti... ORPHA:178303
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment,... ORPHA:2790
Distal Deletion 10P
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Cryptorchidism, Non-midline cleft li... ORPHA:1580
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy OMIM:619705
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia... OMIM:606164
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent... ORPHA:99104
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Dental malocclusion, Gin... ORPHA:61
Mmep Syndrome
Mandibular prognathia, Cryptorchidism, Median cleft lip, Orofacial cleft ORPHA:3434
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flattening, Long phil... ORPHA:261295
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Mandibular prognathia OMIM:309545
Multiple System Atrophy, Cerebellar Type
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... ORPHA:227510
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,... ORPHA:199241
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Protruding ear, High palate, ... ORPHA:85279
Zechi-Ceide Syndrome
Mandibular prognathia, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners o... ORPHA:217017
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing impairment, Alveolar ridge o... OMIM:612938
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Agnathia-Otocephaly Complex
Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Low-set ears, Narrow mouth, ... OMIM:202650
Isotretinoin Syndrome
Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the outer ear ORPHA:2305
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... OMIM:616898
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Distal amyotrophy, Tongue atrophy, Proximal amyotrophy OMIM:254300
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural hearing impairment, Cleft p... OMIM:214300
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge... OMIM:612422
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Joubert Syndrome 18
Occipital encephalocele, Cleft palate, Lobulated tongue, Camptodactyly, Retrognathia OMIM:614815
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... OMIM:619981
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Cryptorchidism, ... ORPHA:1307
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar... ORPHA:99106
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing ... ORPHA:398156
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... OMIM:258860
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Short philtrum, Cleft palate, Protruding ear ORPHA:85317
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Placental Insufficiency
Hypoxemia ORPHA:439167
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Branchiootic Syndrome 3
Branchial cyst, Commissural lip pit, Sensorineural hearing impairment OMIM:608389
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Micrognathia, Cleft palate, Webbed neck OMIM:602196
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... ORPHA:245
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Tongue atrophy, Short neck, Micrognathia, Elbow flexion contracture, Cleft... OMIM:615065
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Micrognathia, N... ORPHA:246
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Chin with horizontal crease, E... OMIM:619736
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Cleft palate, Long philtrum ORPHA:90653
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... OMIM:610921
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Narrow mouth ORPHA:1529
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum, M... ORPHA:94066
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... ORPHA:3201
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Retrognathia, Cleft palate OMIM:620269
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Camptodactyly of finger, Micrognathia, Cryptorchidism, ... ORPHA:261337
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Hypoplas... ORPHA:2554
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Median cleft lip, Micrognathia, Cleft palate, Microglo... OMIM:241800
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormality of the... ORPHA:2994
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Coarctation of aorta, Umbi... OMIM:616145
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Lymphoid Interstitial Pneumonia
Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrictive ventilato... ORPHA:79128
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Developmental And Epileptic Encephalopathy 80
Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology... OMIM:618580
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Micrognathia, Conductive hearing impairment, Myelomeningocele, Me... ORPHA:1393
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Micrognath... ORPHA:251056
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapnia, Abnor... ORPHA:466650
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormality of the ea... OMIM:601680
Burn-Mckeown Syndrome
Mandibular prognathia, Hearing impairment, Cleft upper lip, Micrognathia, Cleft palate, Protrudin... OMIM:608572
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Short neck, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overf... OMIM:609654
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Hartnup Disorder
Glossitis OMIM:234500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:352665
Stickler Syndrome, Type Ii
Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin sequence, Cleft... OMIM:604841
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Flexion contracture,... OMIM:620001
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Short neck, Pericardial effus... ORPHA:79328
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Hip contracture, Microretrognathia, Hearing impairment, Micrognathia, Cari... OMIM:618363
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Low-set ... OMIM:613443
Raine Syndrome
Mandibular prognathia, Short neck, Micrognathia, Protruding ear, High palate, Neonatal death, Mic... OMIM:259775
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Cleft palate, Protruding ear OMIM:302905
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Thin upper lip vermilion, Mandibular prognathia, Facial hypotonia, ... OMIM:300534
Trisomy 12P
Thickened nuchal skin fold, Supernumerary nipple, Short neck, Micrognathia, Cleft palate, Downtur... ORPHA:1699
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permane... OMIM:614608
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Small thenar eminence, Microtia, Atresia of the exte... OMIM:239800
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor... OMIM:619825
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness OMIM:616155
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... OMIM:620285
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Tachypnea,... ORPHA:555874
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Po... OMIM:618622
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners ... ORPHA:453499
Trisomy 8P
Multiple joint contractures, Posteriorly rotated ears, Short neck, Cryptorchidism, Malrotation of... ORPHA:264450
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Apnea, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... ORPHA:228396
Orofaciodigital Syndrome Xv
Low-set ears, Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cleidocranial Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, A... ORPHA:1452
Apert Syndrome
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal par... OMIM:154500
Monosomy 18P
Short neck, Carious teeth, Micrognathia, Cleft palate, Low posterior hairline, Downturned corners... ORPHA:1598
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Everted lower li... OMIM:601499
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Macroorchid... OMIM:300143
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology ORPHA:441
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Leopard Syndrome 2
Mandibular prognathia, Short neck, Thick lower lip vermilion, Low-set ears, Webbed neck OMIM:611554
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Abnormality of the dentition, Narrow mouth, Microgna... ORPHA:261112
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... OMIM:612290
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Mitral stenosis, Palpitations ORPHA:2847
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Distal Monosomy 7Q36
Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mouth, Macrotia ORPHA:1636
Say Syndrome
Macrotia, Cleft palate, Micrognathia OMIM:181180
Toriello-Carey Syndrome
Aganglionic megacolon, Abnormal pinna morphology, Short neck, Micrognathia, Cryptorchidism, Cleft... ORPHA:3338
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Protruding tongue, Persistence of ... OMIM:610253
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory... OMIM:300946
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Atelosteogenesis, Type Ii
Death in infancy, Micrognathia, Short neck, Lacunar halos around chondrocytes, Cleft palate, Stil... OMIM:256050
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta ORPHA:280195
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Posteriorly rotated ears, Short neck, Micrognathia, Narrow mouth, Crypt... OMIM:611209
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Doub... OMIM:301056
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of... ORPHA:1358
Zimmermann-Laband Syndrome
Short neck, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibroma... ORPHA:3473
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, Webbed neck, Malar flattening ORPHA:2145
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Mixed hearing impairment, Facial palsy, Delayed eruption of permanent teet... OMIM:218400
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Micrognathia, High, narrow pa... ORPHA:2409
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Cupped ear, Cleft palate... ORPHA:52055
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Atelosteogenesis, Type Iii
Micrognathia, Hypoplasia of the maxilla, Short neck, Cleft palate, Malar flattening OMIM:108721
Nablus Mask-Like Facial Syndrome
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Short neck, Abnormality of t... OMIM:608156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Icf Syndrome
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Umbilical hernia ORPHA:2268
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Macrotia, Cleft palate, Webb... ORPHA:2167
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Dental crowding, Posteriorly rotated ears, Protruding tongue, Macrotia, Submuco... OMIM:618106
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... ORPHA:2662
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Low-set ears, Narrow mouth, Max... ORPHA:1790
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Severe sensorineural hearing impairmen... OMIM:620186
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Moebius Syndrome
Skeletal muscle atrophy, Death in infancy, Facial palsy, Aplasia/Hypoplasia of the tongue, Microg... ORPHA:570
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Sensorineural hearing impairment, Cleft palate, Micrognathia ORPHA:440354
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Facial diplegia, High pa... OMIM:218000
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Conductive hearing impai... ORPHA:93262
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Diprosopus
External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
8P23.1 Microdeletion Syndrome
Short neck, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abn... ORPHA:251071
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Anotia... ORPHA:268249
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Malar flat... OMIM:242860
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Protruding tongue, Contractures of the large joints, Everted lower lip ver... ORPHA:324410
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, High, narrow palate, Pylori... ORPHA:261330
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Fanconi Anemia, Complementation Group L
Short neck, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anotia, Mi... OMIM:614083
Down Syndrome
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Complete atrioventric... OMIM:190685
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Charcot-Marie-Tooth Disease, Type 4C
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Facial palsy, Upper limb muscle w... OMIM:601596
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness OMIM:300266
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... OMIM:617114
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Hearing impairment, Hypoplasia of the maxilla, Flexion contracture, Prot... ORPHA:481152
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s... ORPHA:436003
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Protruding tongue, Diastema, Short ... OMIM:212066
Haddad Syndrome
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Central hypoventilation, Bre... ORPHA:99803
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:617903
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough OMIM:614575
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Rhizomelic Syndrome, Urbach Type
Micrognathia, Short neck, Abnormality of the tongue, Cleft palate, High palate ORPHA:3098
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Thin vermilion bord... OMIM:301025
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate, Micrognathia OMIM:618356
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Isotretinoin-Like Syndrome
Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Bilateral sens... ORPHA:2306
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, Intracranial hemorrha... ORPHA:90062
Crouzon Syndrome
Hypoplasia of the maxilla, Narrow palate, Conductive hearing impairment, Narrow internal auditory... ORPHA:207
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... ORPHA:994
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Congenital muscular torticollis, Thickened nuchal skin fold, Macrodontia, ... ORPHA:2916
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the parathyroid gland, Cleft ... ORPHA:3429
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Mandibular aplasia, Microglossia, Narrow interna... ORPHA:990
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, High palate, H... OMIM:613823
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Pulmonary Alveolar Microlithiasis
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough... ORPHA:60025
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Scapular winging, Dental crowding, Persistence of primary teeth, Microg... OMIM:170390
Trisomy 17P
Skeletal muscle atrophy, Short neck, Micrognathia, Flexion contracture, Orofacial cleft, Cleft pa... ORPHA:261290
Hydrolethalus
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Ane... ORPHA:2189
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
Holoprosencephaly
Encephalocele, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Congenital dia... ORPHA:2162
Cowden Syndrome 5
Colonic diverticula, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue... OMIM:615108
Tarp Syndrome
Posteriorly rotated ears, Micrognathia, Cleft palate, Tongue nodules, Prominent antihelix, Glosso... OMIM:311900
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic h... OMIM:613309
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis, Hearing impairment, Micrognathia ORPHA:93346
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Microtia, Low... OMIM:613804
Seckel Syndrome 2
Microdontia, Microglossia, Micrognathia OMIM:606744
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum OMIM:619142
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Hypoplasia of the... OMIM:106260
Rapp-Hodgkin Syndrome
Supernumerary nipple, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency... OMIM:129400
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial se... OMIM:618652
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Coffin-Lowry Syndrome
Delayed eruption of teeth, Skeletal muscle atrophy, Death in early adulthood, Craniofacial hypero... ORPHA:192
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... ORPHA:363417
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly rotated ears, Abnormal... ORPHA:2759
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Absent nipple, Extra concha fold, Micrognathia,... OMIM:209885
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... ORPHA:397
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cryptorchidism, Ma... OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Dyspnea, Nonproductive cough, Jaw claudication, Reduce... ORPHA:85443
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Mi... ORPHA:293939
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Micrognathia, Trismus, Cryp... OMIM:254940
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cryptorchidism, Low posterior hairline, Protruding ear, Hypoplasia of the ... ORPHA:1778
X-Linked Intellectual Disability, Nascimento Type
Broad neck, Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, L... ORPHA:163956
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Short neck, Abnormality of the dentition, Carious teeth, Hypop... ORPHA:1798
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... ORPHA:958
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... OMIM:309520
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormal salivary gland morphology ORPHA:31
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve morphology... ORPHA:99103
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Hypoplasia of teeth, Wide mo... ORPHA:50814
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... ORPHA:163979
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... ORPHA:2457
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Low-set ears, Cysti... OMIM:312150
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... OMIM:618494
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... ORPHA:989
Down Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Short neck, Protruding tongue, Abnormality of ... ORPHA:870
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Short neck, Hypoplasia of the ma... OMIM:305400
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Prominent crus of helix, Ever... OMIM:617804
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Cleft palate, Low posterior hairline, Hydrocele testis, Protruding ear,... OMIM:619493
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... ORPHA:3241
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, H... ORPHA:782
Cowden Syndrome 6
Colonic diverticula, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue... OMIM:615109
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Abnormali... OMIM:616331
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of the maxilla ORPHA:313892
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Micrognathia, Esophageal atresia, Cryptorchidism, Tracheoes... ORPHA:3412
Transaldolase Deficiency
Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:606003
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... OMIM:174300
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... ORPHA:2780
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Atresia of the ex... OMIM:123500
Distal Deletion 19P
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... ORPHA:96129
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Saethre-Chotzen Syndrome
Open bite, Hypoplasia of the maxilla, Prominent crus of helix, Cryptorchidism, External ear malfo... ORPHA:794
Otospondylomegaepiphyseal Dysplasia
Posteriorly rotated ears, Micrognathia, Short neck, Sensorineural hearing impairment, Cleft palat... ORPHA:1427
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Short neck, Micrognathia, Cryptorchidi... ORPHA:3376
Lelis Syndrome
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue ORPHA:140936
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... OMIM:253250
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide ... ORPHA:251061
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Short neck, Micrognathia, Long neck, Cleft palate, Protruding ear, High palate, Low-set ears, Nar... OMIM:301091
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Microtia, T... OMIM:613805
Cerebrocostomandibular Syndrome
Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious teeth, Cleft li... OMIM:117650
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... OMIM:118100
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... OMIM:269300
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Abnormali... ORPHA:2363
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Microgna... OMIM:277170
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abnormality of canine, Pierre... ORPHA:364577
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate, Low-set ears, Right ventricular hypertrophy, Hearing imp... OMIM:614261
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Uplifted earlobe, Cleft palate, Furrowed tongue, High palate, Short p... OMIM:616449
Robinow Syndrome, Autosomal Dominant 3
Hearing impairment, Short neck, Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gin... OMIM:616894
Fatal Familial Insomnia
Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Sickle Cell Disease
Hypoxemia, Hypertension OMIM:603903
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Tongue fasciculations OMIM:614678
Braddock-Carey Syndrome 1
Posteriorly rotated ears, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Thick verm... OMIM:619980
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion OMIM:176700
Carpenter Syndrome 1
Abnormal pinna morphology, Persistence of primary teeth, Short neck, Micrognathia, Hypoplasia of ... OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Submuco... OMIM:114300
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Anteriorly placed... ORPHA:1299
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hydrolethalus Syndrome 2
Anencephaly, Cleft palate, Micrognathia OMIM:614120
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Microglossia, Narrow mouth ORPHA:1972
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
Craniofacial Microsomia 1
Occipital encephalocele, Hypoplasia of facial musculature, Cleft upper lip, Hypoplasia of the max... OMIM:164210
Noonan Syndrome 8
Ventricular septal defect, Short neck, Patent ductus arteriosus, Pulmonic stenosis, Webbed neck, ... OMIM:615355
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Open bite, Hypoplasia of the maxilla, Cryptorch... ORPHA:950
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancrea... OMIM:311200
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... OMIM:601186
Tetraploidy
Hypoplasia of the ear cartilage, Short philtrum, Cleft palate, Micrognathia ORPHA:3305
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Malabsorption, Tympanosclerosis, Cholelithiasis, Enamel h... OMIM:240300
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Sickle Cell Anemia
Hypoxemia ORPHA:232
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nucha... OMIM:616564
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... OMIM:618975
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... OMIM:169500
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Infantile Neuroaxonal Dystrophy
Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati... ORPHA:35069
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Pointed chin, R... OMIM:620157
Rh Deficiency Syndrome
Hypoxemia, Tachycardia, Tachypnea ORPHA:71275
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Marshall Syndrome
Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impa... ORPHA:560
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Question Mark Ears, Isolated
Hearing abnormality, Question mark ear OMIM:612798
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:214800
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue ORPHA:2928
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Patent d... OMIM:605275
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Microglossia, Cle... ORPHA:2839
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorl... OMIM:608670
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Short neck, Micrognathia, Cleft palate, High palate, Hypoplastic nipple... OMIM:156610
Recombinant 8 Syndrome
Camptodactyly of finger, Hearing impairment, Cleft upper lip, Abnormality of the dentition, Micro... ORPHA:96167
Johnson Neuroectodermal Syndrome
Facial palsy, Carious teeth, Cleft palate, Protruding ear, Microtia, Everted lower lip vermilion,... ORPHA:2316
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Micrognathia, Cleft palate, Cleft upper lip OMIM:601076
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Congenital diaphragmatic hernia, Mic... ORPHA:1915
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat... ORPHA:97214
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Patent ductus arteriosus, Pulmonic stenosis, Webbed neck, Atrial septal defect, Doubl... OMIM:618223
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ... ORPHA:193
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal pinna morphology, Camptodactyly of finger, Hearing impairment, Micrognath... ORPHA:90652
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor OMIM:602418
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Sensori... OMIM:601390
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... ORPHA:2095
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Oligomeganephronia
Branchial cyst, Hearing impairment, Congenital diaphragmatic hernia, Micrognathia ORPHA:2260
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia OMIM:166300
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption... ORPHA:763
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Flexion contracture, Cleft palate, Amyoplasia, Low-set ears, Cystic hygroma OMIM:253290
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle ... OMIM:620278
Cohen Syndrome
Facial hypotonia, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia... OMIM:216550
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal dental enamel... ORPHA:439822
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormality of the ne... ORPHA:904
Achondroplasia
Hypoxemia, Restrictive ventilatory defect ORPHA:15
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Posteriorly rotated ears, Broad chin, Wide mouth, Prominent antihelix, ... ORPHA:466950
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98795
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... ORPHA:1507
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypoxemia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity... ORPHA:456312
Holoprosencephaly 9
Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ... OMIM:610829
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Malabsorption, Abnormalit... ORPHA:581
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Cryptorchidism, Abs... OMIM:301040
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Marshall-Smith Syndrome
Protruding tongue, Gingival overgrowth, Conductive hearing impairment, Open mouth, Retrognathia ORPHA:561
Kilquist Syndrome
Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Broad chin, Xerostomia, Hypopl... OMIM:619080
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Cryptorchidism, Subm... ORPHA:2588
Cousin Syndrome
Posteriorly rotated ears, Short neck, Micrognathia, Microtia, first degree, Alveolar ridge overgr... OMIM:260660
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Thin upper lip vermilion, Death in infancy, Redundant neck skin, Shor... OMIM:235255
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, M... ORPHA:2754
Cowden Syndrome 1
Colonic diverticula, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue... OMIM:158350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Death in infancy, Short neck, Protruding tongue, Micrognathia, Sensorine... OMIM:608779
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Short philtrum, Low-set ears, N... ORPHA:397695
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Narrow palate, Agene... OMIM:618644
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Short neck, Coarctation of aorta OMIM:300514
Aase-Smith Syndrome I
Death in infancy, Abnormal pinna morphology, Flexion contracture, Cleft palate, Open mouth OMIM:147800
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Micrognathia, Abnormality of the gingiva, Absent cupid's bow, Abnorm... ORPHA:513456
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension, Hypocapnia ORPHA:90794
Kagami-Ogata Syndrome
Diastasis recti, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Microtia, Long phi... OMIM:608149
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Micrognathia, Cryptorchidism, Abnormality o... ORPHA:168572
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Duplication Of The Pituitary Gland
Encephalocele, Short neck, Supernumerary tooth, Abnormality of masseter muscle, Abnormal pituitar... ORPHA:314621
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otiti... ORPHA:2728
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck ORPHA:2328
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Pointed chin, ... OMIM:620099
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... ORPHA:2010
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect OMIM:249270
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype... OMIM:615279
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... OMIM:180700
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Distal Deletion 9P
Low-set, posteriorly rotated ears, Abnormality of the dentition, Short neck, High, narrow palate,... ORPHA:1642
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth... ORPHA:1071
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:615546
Martsolf Syndrome 1
Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Low posterior ... OMIM:212720
Porphyria Variegata
Hypertension, Tachycardia, Respiratory paralysis, Abnormal autonomic nervous system physiology ORPHA:79473
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Atrial septal ... OMIM:619769
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Low posterior hairline, Coarctation of aorta OMIM:618929
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Absent frontal sinuses, Knee flexion contractu... OMIM:305620
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Tongue atrophy, Vertigo, Tongue fasciculations, Hearing impairment ORPHA:276198
Interstitial Lung And Liver Disease
Hypoxemia, Dyspnea, Respiratory insufficiency, Cough OMIM:615486
Rabson-Mendenhall Syndrome
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Gingival ... ORPHA:769
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Non-midline cleft lip, Aplasia/Hypoplasia of the... ORPHA:1104
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Tracheoesophageal fist... ORPHA:63862
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Short neck, Micrognathia, Thic... OMIM:619297
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Microtia, Atresia of the external ... OMIM:610536
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery stenosis, Webbed neck, Tra... OMIM:280000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Glossoptosis ORPHA:2031
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... ORPHA:659
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:109120
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, A... OMIM:615668
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho... OMIM:604292
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Short neck, Micrognathia, Cryptorchidism, Sensorineural hearing impairme... OMIM:614230
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Sensorineural hearing... OMIM:211530
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat... OMIM:618874
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Short neck OMIM:616789
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm ORPHA:2221
Microcephaly-Micromelia Syndrome
Micrognathia, Short neck, Cleft palate, Low-set ears, Narrow mouth, Neonatal death, Cystic hygroma OMIM:251230
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:411511
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... ORPHA:2331
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmonary artery hyp... OMIM:300963
Igg4-Related Submandibular Gland Disease
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... ORPHA:449432
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Short neck, Cleft palate, Glossoptosis, Hearing impairment ORPHA:94068
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Micrognathia, Cleft palate, Hydranencephaly, Joint contracture, Cy... OMIM:225790
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, ... ORPHA:464738
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Elbow flexion contracture, ... ORPHA:2920
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palat... ORPHA:2075
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Cleft palate, L... OMIM:603736
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... ORPHA:1101
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Abnorm... ORPHA:1708
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Van Den Ende-Gupta Syndrome
Dental crowding, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Oligodontia, Thick vermilion border... OMIM:609460
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Protruding tongue, Conductive hearing... ORPHA:99843
Achondrogenesis, Type Ii
Microretrognathia, Cleft palate, Stillbirth, Long philtrum, Cystic hygroma OMIM:200610
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Accessory oral frenulum, Short neck, Hamart... ORPHA:434179
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Abnormal autonomic nervous system physiology ORPHA:282166
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Prune Belly Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Sensorineural hearing impairment OMIM:608154
Tarp Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alveolar ... ORPHA:2886
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... ORPHA:2750
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Posteriorly rotated ears, Micrognathia, Protruding tongue, High, narrow pala... OMIM:214100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Neu-Laxova Syndrome 2
Spina bifida, Micrognathia, Short neck, Cleft palate, High palate, Low-set ears OMIM:616038
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Natal tooth, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Robinow Syndrome
Mixed hearing impairment, Dental crowding, Posteriorly rotated ears, Persistence of primary teeth... ORPHA:97360
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Low-set... ORPHA:2752
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears OMIM:167730
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A... ORPHA:2753
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Au-Kline Syndrome
Thickened nuchal skin fold, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairmen... OMIM:616580
Distal Deletion 3P
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Cryptorchidism, Cleft palate, Downtu... ORPHA:1620
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate OMIM:617337
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenit... OMIM:208150
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Pfeiffer Syndrome
Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dental crowding OMIM:101600
Shprintzen-Goldberg Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High,... ORPHA:2462
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Shprintzen-Goldberg Craniosynostosis Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Cry... OMIM:182212
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... OMIM:208050
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
X-Linked Agammaglobulinemia
Sinusitis, Malabsorption, Sensorineural hearing impairment, Glossoptosis, Chronic otitis media ORPHA:47
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Fryns Syndrome
Thickened nuchal skin fold, Short neck, Abnormal aortic arch morphology, Abnormal cardiac septum ... ORPHA:2059
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia,... OMIM:613406
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Micro... OMIM:263750
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Autosomal Dominant Robinow Syndrome
Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of ... ORPHA:3107
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ... OMIM:149730
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of f... ORPHA:2604
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Immunodeficiency With Hyper-Igm, Type 1
Hypoxemia OMIM:308230
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Mitral va... OMIM:121050
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... ORPHA:991
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Abnormal autonomic nervo... ORPHA:94093
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai... OMIM:300373
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Posteriorly rotated ears, ... OMIM:268310
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed an... ORPHA:314679
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology ORPHA:83601
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Meier-Gorlin Syndrome 1
Death in infancy, Incomplete partition of the cochlea type II, Micrognathia, Hypoplasia of the ma... OMIM:224690
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... OMIM:615948
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... OMIM:617877
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cleft palate, Abnormal helix morphology, Camptodactyly of... ORPHA:158687
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
3Mc Syndrome 2
Torticollis, Prominence of the premaxilla, Diastasis recti, Hypoplasia of the musculature, Partia... OMIM:265050
Char Syndrome
No permanent dentition, Patent ductus arteriosus, Ventricular septal defect, Persistence of prima... ORPHA:46627
Orofaciodigital Syndrome X
Retrognathia, Cleft palate OMIM:165590
Alexander Disease
Facial palsy, Sudden cardiac death, Respiratory insufficiency, Hypertension, Abnormal autonomic n... ORPHA:58
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... OMIM:301022
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Posteriorly rotated ears, Congenital diaphragmatic hernia, Microgn... ORPHA:2745
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Dyspnea, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural eff... OMIM:181000
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Hypoxemia, Mitral regurgita... ORPHA:284979
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognat... ORPHA:828
Ring Chromosome 22 Syndrome
Pointed chin, Macrotia, Thick vermilion border, Protruding tongue ORPHA:1446
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
46,Xy Sex Reversal 4
Micrognathia, Sensorineural hearing impairment, Cleft palate, Microtia, High palate, Long philtru... OMIM:154230
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Rett Syndrome
Abnormal autonomic nervous system physiology, Abnormal pattern of respiration ORPHA:778
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy, Abn... ORPHA:2131
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Sensorineural hear... ORPHA:99956
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of... OMIM:617925
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Abnormal cardiac septu... ORPHA:138
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Abnormal tricuspid valve... ORPHA:7
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Optic atrophy, Respiratory insufficiency, Cardiomyopa... ORPHA:3463
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Abnormality of the ... ORPHA:79078
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:614114
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology OMIM:256800
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Posteriorly rotated ears, Decreased response to growth hormone s... OMIM:146510
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Malar flattening, Short neck, Carious teeth, Micrognathia, Elbow f... OMIM:601559
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection OMIM:618343
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short neck, Coronary artery fistula, Abnormal cardiac se... OMIM:614294
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Torticollis ORPHA:276432
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, C... ORPHA:1106
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone lev... ORPHA:3044
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Thakker-Donnai Syndrome
Ventricular septal defect, Short neck, Transposition of the great arteries, Webbed neck, Tetralog... ORPHA:1780
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Micrognathia, Protruding tongue, Cupped ear, High palate, Low-set ears,... OMIM:617062
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Posteriorly rotated ears, Heari... OMIM:601088
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Supernumerary ni... OMIM:213980
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... ORPHA:2907
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... OMIM:612562
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Umbilical hernia, T... OMIM:188400
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction ORPHA:447896
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... OMIM:602535
Benign Schwannoma
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Vestibular schwannoma, Abnormal... ORPHA:252164
Distal Deletion 12Q
Median cleft lip, Unilateral cryptorchidism, Short neck, Micrognathia, High, narrow palate, Esoph... ORPHA:96149
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2108
Osteoglophonic Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Camptodactyly of finger, Short neck, Hypoplasia... OMIM:166250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... ORPHA:466768
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Anterior pituitary hypoplasia, Abnormality of the dentition, Micrognathia,... OMIM:151050
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p... ORPHA:99027
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal defect, Umbilical ... OMIM:612582
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Hearing impairment, Cryptorchidism, Narrow palate, Poi... OMIM:616078
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Short neck ORPHA:93267
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Dent... OMIM:101800
Arterial Tortuosity Syndrome
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... ORPHA:3342
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect ORPHA:2519
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Low-set ears, Umbilical hernia, Hearing impairment ORPHA:93399
Kabuki Syndrome 2
Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana... OMIM:300867
Emanuel Syndrome
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Truncus arteriosus, Delayed e... OMIM:609029
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98794
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis, Cysti... OMIM:313850
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Dysbetalipoproteinemia
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Peripheral arterial stenosis, Aortic... ORPHA:412
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension ORPHA:2282
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Atrial septal... OMIM:618870
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Kleefstra Syndrome
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery ste... ORPHA:261494
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Mandibular prognathia, Stapes ankylosis, Dental crowding, Absent malle... OMIM:614188
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Atrial se... ORPHA:1335
Machado-Joseph Disease
Abnormal autonomic nervous system physiology OMIM:109150
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Small hypothenar eminence, Micrognathia, Agenesis of mandibular central inciso... OMIM:268305
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short neck, Hypoplasia of the maxilla, Cleft lip... OMIM:139210
2Q37 Microdeletion Syndrome
Umbilical hernia, Abnormal aortic morphology, Short neck ORPHA:1001
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Ventricular septal defect, Short neck, Patent ductus arteriosus, Hypoplastic aortic a... OMIM:617506
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia ORPHA:556955
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Cryptorchid... OMIM:613803
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Abnormality of the temporomandibular joint, Facial palsy, ... ORPHA:258
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth, Myopathy, Stillb... OMIM:243605
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Short neck, Low posterior hairline, Aortic root... ORPHA:96201
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Sensorineura... OMIM:601812
Desbuquois Syndrome
Ventricular septal defect, Short neck ORPHA:1425
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... OMIM:277380
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of... ORPHA:488642
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ... ORPHA:1051
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Abnormal autonomic nervous system physiology, Hypotension ORPHA:93256
Chronic Visceral Acid Sphingomyelinase Deficiency
Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab... ORPHA:77293
Blomstrand Lethal Chondrodysplasia
Natal tooth, Micrognathia, Protruding tongue, Low-set ears, Long philtrum, Malar flattening ORPHA:50945
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Cystic hygroma, Webbed neck,... OMIM:153400
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, ... OMIM:601808
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Low-set ears ORPHA:2399
8Q24.3 Microdeletion Syndrome
Microretrognathia, Thin upper lip vermilion, Branchial cyst, Ectopic posterior pituitary, Posteri... ORPHA:508488
Microtia-Anotia
Anotia, Microtia OMIM:600674
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia... ORPHA:920
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Low-set ears, Protruding tongue OMIM:618797
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Persistent left superior vena cava, Transposition of... OMIM:314390
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Camptodactyly, Malar flattening OMIM:231070
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Fraser Syndrome
Encephalocele, Death in infancy, Anal stenosis, Low-set, posteriorly rotated ears, Dental crowdin... ORPHA:2052
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... ORPHA:64744
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the prema... ORPHA:2166
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Camptodactyly of finger, Intestin... OMIM:249000
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... OMIM:220500
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Cryptorchidism, ... OMIM:603457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Cryptorchidism, Sen... OMIM:616975
Oculoectodermal Syndrome
Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:600268
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Aganglionic megacolon, Abnormal dental enamel morphology, Cong... ORPHA:818
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, High, narrow p... OMIM:612289
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl... OMIM:259600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Cystic hygroma, Ventricular septal defect ORPHA:3378
Muir-Torre Syndrome
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Kapur-Toriello Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Low posterior hairline, Atrial s... OMIM:244300
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H... OMIM:309580
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop... OMIM:305100
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical hernia, Abnormal venous ... ORPHA:1900
Mosaic Trisomy 20
Micrognathia, Long neck, Cleft lip, Cryptorchidism, Cleft palate, Craniofacial asymmetry, Retrogn... ORPHA:1724
King-Denborough Syndrome
Webbed neck, Ventricular septal defect, Short neck OMIM:619542
Mosaic Trisomy 1
Pulmonary artery atresia, Increased nuchal translucency, Ventricular septal defect, Coarctation o... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Narrow mouth, Pyloric stenosis... OMIM:617402
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Abse... OMIM:610828
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Spondylo-Ocular Syndrome
Webbed neck, Ventricular septal defect, Low posterior hairline, Short neck ORPHA:85194
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Low-set ears, Umbilical hernia, Hearing impairment ORPHA:93400
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion cont... OMIM:263650
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Elbow flexion contracture, Furrowed tongue, Knee flexion contra... OMIM:148210
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Filippi Syndrome
Ventricular septal defect OMIM:272440
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Broad neck, Patent ductus arteriosus, Ventricular septal defect, Short neck OMIM:300472
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Warburg-Cinotti Syndrome
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, ... OMIM:618175
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Glossitis, Cheilitis ORPHA:90045
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Pancreatic fibrosis, Aplasia/Hypoplasia of the ... ORPHA:564
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:618950
Achondrogenesis, Type Ia
Protruding tongue, Short neck, Increased nuchal translucency, Stillbirth, Low-set ears OMIM:200600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele OMIM:601357
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Emanuel Syndrome
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Pa... ORPHA:96170
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Decreased ... ORPHA:444077
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... ORPHA:89842
Alagille Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Peripheral pulmonary arter... ORPHA:52
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Fg Syndrome Type 1
Coarctation of aorta, Mitral valve prolapse, Atrial septal defect, Umbilical hernia, Broad neck ORPHA:93932
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:113000
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Sensorineural hearing impairment, Distal amyotrophy, Tongue fasciculations, Diffi... ORPHA:99949
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop... OMIM:100300
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... ORPHA:391665
Trisomy 20P
Abnormal autonomic nervous system physiology ORPHA:261318
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia,... OMIM:619503
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short neck, Abnormal heart morphology, Umbilical hernia, Patent forame... ORPHA:369891
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology ORPHA:247234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aorti... ORPHA:2962
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate, Thickened helic... OMIM:608328
Trisomy 1Q
Increased nuchal translucency, Patent ductus arteriosus, Cystic hygroma, Ventricular septal defect ORPHA:261344
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology ORPHA:2828
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Thalidomide Embryopathy
Anotia, Abnormality of the outer ear, Hearing impairment ORPHA:3312
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect OMIM:611134
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Hearing impairment, Protruding tongue, Micrognathia, Flexion contrac... ORPHA:98889
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Low-set ears, Protruding tongue OMIM:620352
Mosaic Variegated Aneuploidy Syndrome
Increased nuchal translucency, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aort... ORPHA:1052
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Woods Syndrome
Ventricular septal defect OMIM:615236
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Pointed chin, Protruding tongue OMIM:619179
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Igg4-Related Ophthalmic Disease
Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Abnormality... ORPHA:449563
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Short neck, Micrognathia,... ORPHA:96334
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... ORPHA:139417
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Di... ORPHA:284984
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Webbed neck, Pulmonic... OMIM:609942
Zttk Syndrome
Absent gallbladder, Abnormality of the dentition, Hypoplasia of the maxilla, Flexion contracture,... OMIM:617140
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Dyskeratosis Congenita
Neoplasm of the pancreas, Esophageal stenosis, Abnormality of the dentition, Carious teeth, Malab... ORPHA:1775
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa... OMIM:158170
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ... ORPHA:79345
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Short neck, Micrognathia, Hypoplasia of the maxilla... OMIM:261540
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Short neck, Spina bifida, C... ORPHA:508498
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Abnormality of the neck, Oral ulcer ORPHA:50918
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Joubert Syndrome 14
Intracranial hemorrhage, Encephalocele, Meningocele, Ventricular septal defect OMIM:614424
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Short neck, Spina bifid... ORPHA:99776
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Short neck, Cardiomegaly, Webbed neck, Hypertrophic cardiomyopathy OMIM:616897
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, Short neck OMIM:617452
Angelman Syndrome
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:72
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Umbilical hernia, Pate... OMIM:618454
Yunis-Varon Syndrome
Redundant neck skin, Abnormal pinna morphology, Premature loss of primary teeth, Micrognathia, Ab... ORPHA:3472
Joubert Syndrome 1
Protruding tongue, Occipital myelomeningocele, Macroglossia, Low-set ears, Triangular-shaped open... OMIM:213300
Lambotte Syndrome
Ventricular septal defect OMIM:245552
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Abnormality of the ovary, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia ORPHA:2975
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, Large placenta, Increase... OMIM:215140
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Short neck, Mitral valve prolapse ORPHA:444072
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Marfan Syndrome
Mitral valve calcification, Descending aortic dissection, Meningocele, Dilatation of an abdominal... ORPHA:558
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615879
Noonan Syndrome 4
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype... OMIM:610733
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular canal... OMIM:619480
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s... OMIM:117550
Kury-Isidor Syndrome
Ventricular septal defect, Short neck OMIM:619762
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect ORPHA:1458
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Anterior pit... OMIM:619841
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, Short neck ORPHA:505237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... OMIM:235510
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1488
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au... ORPHA:293987
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Short neck OMIM:615673
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc... OMIM:180849
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Narrow palate OMIM:277600
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmoni... ORPHA:3071
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short neck OMIM:609053
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Agel Amyloidosis
Tongue atrophy, Xerostomia, Facial palsy, Hearing impairment ORPHA:85448
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida oc... OMIM:119500
Gm1 Gangliosidosis
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... ORPHA:354
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physiology, Facial ... ORPHA:297
Gracile Bone Dysplasia
Death in infancy, Ankyloglossia OMIM:602361
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Hearing impairment, Limb hypertonia OMIM:619580
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Short neck OMIM:610832
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Decreased response to growth hormone stimulation test, H... OMIM:180500
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta ORPHA:1199
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Neuroocular Syndrome
Scapular winging, Unilateral deafness, Short uvula, Submucous cleft hard palate, Cupped ear, Ante... OMIM:619539
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Cryptorchidism, Macrotia, Cleft palate,... OMIM:607932
Galloway-Mowat Syndrome 3
Coarctation of aorta OMIM:617729
Hydrolethalus Syndrome 1
Broad neck, Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate,... OMIM:236680
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve... ORPHA:84
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:270450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Short neck, Coarctation of aorta, Abnormal hear... ORPHA:124
Noonan Syndrome 1
Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarctation of aorta, Low poster... OMIM:163950
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect ORPHA:1782
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short neck, Coarctation of aorta, Webbed neck, Atr... OMIM:105650
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Pulmonic ... OMIM:610759
Nmda Receptor Encephalitis
Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol... ORPHA:217253
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Floating-Harbor Syndrome
Persistence of primary teeth, Short neck, Celiac disease, Carious teeth, Hypoplasia of the maxill... ORPHA:2044
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217085
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Abnormality of the dentition, Trismus, Flexion contracture, Elbow flexio... ORPHA:3206
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Larsen Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm OMIM:150250
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Hearing impairment, Furrowed tongue OMIM:158310
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:617088
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Short neck OMIM:620073
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Cleft upper lip, Cleft palate, Low-set ears, Adren... OMIM:273395
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Low posterior hairline, Atrial septal defect, Spi... OMIM:617360
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short neck ORPHA:254346
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Short neck, Pancreatic lymphangiectasis, Pulmonar... ORPHA:1655
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Short lingual frenulu... ORPHA:740
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... ORPHA:2729
Degcags Syndrome
Micrognathia, High palate, Diaphragmatic eventration, Hiatus hernia, Cryptorchidism, Thick vermil... OMIM:619488
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Short neck, Coarctation of aorta, Hypoplastic left heart... ORPHA:2308
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Patent ductus arteriosus, Aortic rupture OMIM:614557
Doors Syndrome
Thickened nuchal skin fold, Sirenomelia, Delayed eruption of permanent teeth, Double outlet right... ORPHA:79500
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Atrial s... OMIM:274000
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Hypoplasia of... OMIM:259050
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Posterior helix pit, Exaggerated median t... OMIM:312870
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal defect, Aortic val... ORPHA:96121
Sarcoidosis
Enlargement of parotid gland, Enlarged lacrimal glands, Facial palsy, Parotitis ORPHA:797
Blau Syndrome
Camptodactyly of finger, Abnormal salivary gland morphology, Xerostomia, Facial palsy ORPHA:90340
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Omodysplasia 1
Ventricular septal defect, Short neck, Pulmonary artery stenosis, Atrial septal defect, Umbilical... OMIM:258315
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P... OMIM:301068
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Smith-Lemli-Opitz Syndrome
Microretrognathia, Death in infancy, Aganglionic megacolon, Dental crowding, Intestinal malrotati... OMIM:270400
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Adva... ORPHA:1519
Pallister-Hall Syndrome
Gonadotropin deficiency, Bifid uvula, Microretrognathia, Low-set, posteriorly rotated ears, Acces... ORPHA:672
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongue morphology, Primary hyperparat... ORPHA:653
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:613457
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal... ORPHA:353281
Cowden Syndrome
Hearing impairment, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macrog... ORPHA:201
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Muscular ventricular septal defect, Patent ductus arteriosus, ... OMIM:612474
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart mo... ORPHA:1465
Autosomal Dominant Cutis Laxa
Redundant neck skin, Dilatation of the ventricular cavity, Coarctation of aorta, Peripheral pulmo... ORPHA:90348
Duane-Radial Ray Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation OMIM:607323
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul... OMIM:245150
Leprosy
Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous system physiology ORPHA:548
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis ORPHA:449395
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Retinal... ORPHA:567
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect OMIM:257920
Kabuki Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta ORPHA:2322
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta... OMIM:182250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Low-set ears, Smooth philtrum ORPHA:79282
Restrictive Dermopathy
Natal tooth, Dextrocardia, Large placenta, Patent ductus arteriosus, Webbed neck, Ascending tubul... ORPHA:1662
Diets-Jongmans Syndrome
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... OMIM:618846
Zellweger Syndrome
Thickened nuchal skin fold, Ventricular septal defect ORPHA:912
Trichohepatoenteric Syndrome 1
Large placenta, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Cocaine Intoxication
Subarachnoid hemorrhage, Ischemic stroke, Cerebral hemorrhage, Aortic dissection ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Congenital Disorder Of Glycosylation, Type Iiw
Micrognathia, Supernumerary tooth, Bile duct proliferation, Low-set ears, Recurrent otitis media,... OMIM:619525
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... OMIM:263520
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
3Q29 Microduplication Syndrome
Ventricular septal defect, Short neck ORPHA:251038
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Torticollis, High, narrow palate, Short uvula, Cupped ear, Protruding e... OMIM:619475
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,... ORPHA:209905
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Webbed neck, Ventricular septal defect, Short neck OMIM:178110
45,X/46,Xy Mixed Gonadal Dysgenesis
Webbed neck, Bicuspid aortic valve, Low posterior hairline, Coarctation of aorta ORPHA:1772
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, Carious teet... ORPHA:79408
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Thickened nuchal skin fold, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctat... OMIM:220111
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Floating-Harbor Syndrome
Short neck, Coarctation of aorta, Low posterior hairline, Atrial septal defect, Umbilical hernia,... OMIM:136140
Ogden Syndrome
Torticollis, Redundant neck skin, Bicuspid aortic valve, Left atrial enlargement, Ventricular sep... OMIM:300855
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Mitral valve prolapse OMIM:616202
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Hypoplasia of the maxilla, Cleft palate, Protruding ear, Downturned corners o... ORPHA:500150
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363958
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Glucagonoma
Neoplasm of the pancreas, Intestinal obstruction, Elevated circulating growth hormone concentrati... ORPHA:97280
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Thickened nuchal skin fold, Arterial dissection, Bicuspid aortic valve, Sho... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Thickened nuchal skin fold, Arterial dissection, Bicuspid aortic valve, Sho... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Thickened nuchal skin fold, Arterial dissection, Bicuspid aortic valve, Sho... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Thickened nuchal skin fold, Arterial dissection, Bicuspid aortic valve, Sho... ORPHA:881
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ... OMIM:157170
Neu-Laxova Syndrome 1
Broad neck, Ventricular septal defect, Spina bifida, Short neck, Patent ductus arteriosus, Transp... OMIM:256520
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short neck, Webbed neck, Atrial septal defect, Tetralogy of Fallot OMIM:613458
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Short neck, Muscular ventricular septal defect, Coarctation of aorta, ... OMIM:210710
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Short neck ORPHA:251028
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect OMIM:619229
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal... ORPHA:353277
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464311
17Q11 Microdeletion Syndrome
Abnormal internal carotid artery morphology, Coarctation of aorta, Abnormal heart morphology, Web... ORPHA:97685
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Nicolaides-Baraitser Syndrome
Umbilical hernia, Low posterior hairline, Coarctation of aorta OMIM:601358
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... ORPHA:3047
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Microsporidiosis
Myositis, Sinusitis, Glossitis, Abnormality of the parathyroid gland ORPHA:2552
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype... OMIM:607721
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
Osteogenesis Imperfecta
Abnormal endocardium morphology, Delayed eruption of teeth, Cerebral hemorrhage, Mitral valve pro... ORPHA:666
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Delayed eruption ... OMIM:600373
Hajdu-Cheney Syndrome
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Short neck OMIM:102500
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Choreoacanthocytosis
Dilated cardiomyopathy, Abnormal autonomic nervous system physiology, Decreased amplitude of sens... ORPHA:2388
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464306
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter... OMIM:235730
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Webbed neck, Atrial septal defect ORPHA:3380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Micrognathia, Esophageal atresia, Cryptorchidism, Ectopic anus, Long philtrum, B... ORPHA:93271
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short neck ORPHA:251014
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Short neck, Patent ductus arteriosus, Umbilical herni... ORPHA:955
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis, Short neck ORPHA:488632
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Carney Complex
Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Neoplasm of the rectu... ORPHA:1359
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmonic steno... OMIM:218040
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect OMIM:243150
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient... ORPHA:286
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res... ORPHA:273
Carpenter Syndrome 2
Dextrocardia, Short neck, Situs inversus totalis, Patent ductus arteriosus, Transposition of the ... OMIM:614976
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:619534
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Histiocytoid Cardiomyopathy
Stroke-like episode, Ventricular septal defect, Cardiomegaly ORPHA:137675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Oculodentodigital Dysplasia
Umbilical hernia, Ventricular septal defect ORPHA:2710
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Short neck OMIM:147791
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Ventricular septal defect ORPHA:33364
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Abnormality of the dentition, ... ORPHA:821
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Low posterior hairline, Short neck OMIM:122470
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... OMIM:194050
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Ventricular septal defect OMIM:614866
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Renal Agenesis
Ventricular septal defect ORPHA:411709
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect OMIM:617063
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Ventricular septal defect, Mitral stenosis, T... OMIM:143095
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Broad neck, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic... ORPHA:363700
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occu... OMIM:135900
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Short neck OMIM:271640
Plague
Chapped lip, Enterocolitis, Inflammation of the large intestine, Glossitis, Hearing impairment ORPHA:707
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Fryns Syndrome
Atrial septal defect, Broad neck, Ventricular septal defect, Short neck OMIM:229850
Simpson-Golabi-Behmel Syndrome
Ventricular septal defect, Short neck, Cardiomyopathy, Webbed neck, Atrial septal defect, Umbilic... ORPHA:373
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Oral ulcer, Colitis, Anoperineal fistula, Recurrent o... OMIM:619381
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:613884
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect OMIM:619418
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary v... ORPHA:261552
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... ORPHA:268261
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Broad neck OMIM:619522
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu... ORPHA:2152
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Low posterior hairline, Webbed neck, Atrial septal defect, Craniofacia... OMIM:194190
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Pallister-Killian Syndrome
Delayed eruption of teeth, Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarc... OMIM:601803
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Short neck, Increased nuchal translucency, ... ORPHA:199
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Frontal encephalocele, Atrial se... OMIM:268300
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect, Short neck OMIM:620330
Johanson-Blizzard Syndrome
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ... OMIM:243800
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot, Patent foram... OMIM:216340
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Delayed eruption of teeth OMIM:606170
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106

Histopathology

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

There is no histopathology data for Edn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Edn1.

No publications found that use IMPC mice or data for Edn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Edn1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Edn1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Edn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Edn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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