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Gene: Asph MGI:1914186

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aspartate-beta-hydroxylase
Synonyms:
Junctin,  jumbug,  BAH,  aspartyl beta-hydroxylase,  2310005F16Rik,  cI-37,  junctate,  calsequestrin-binding protein,  3110001L23Rik

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 Asph 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 Asph by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Traboulsi Syndrome
Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Prominent nose, Prominent nasal bri... OMIM:601552

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Crossed Polysyndactyly
Depressed nasal bridge, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the ph... ORPHA:2935
Syngnathia
Cleft palate OMIM:119550
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, High palate, Clinodac... ORPHA:217340
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Wide nasal bridge, Broad nasal tip, Thick lower lip vermilion, Thick upper lip vermilion, Broad p... OMIM:600093
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Abnormal palate morphology, Short nose ORPHA:1450
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Tooth agenesis, Narrow mouth, Triphalangeal thumb, Abnormal... ORPHA:1406
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerate... ORPHA:261120
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... ORPHA:2007
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly OMIM:613681
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Short distal phalanx of finger, Tooth agenesis, Op... ORPHA:1248
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, Selective tooth agenesis, Widely spaced tee... OMIM:225280
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Narrow mouth, Abnormal metacarpal morphology, Brachydacty... ORPHA:2370
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose, Postaxial polydactyly, Cleft palate OMIM:612913
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Cleft pa... ORPHA:376
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Aurocephalosyndactyly
Short columella, 4-5 toe syndactyly OMIM:109050
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnormality of the philtr... ORPHA:3268
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Bardet-Biedl Syndrome 5
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo... ORPHA:1529
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Capitate-hamate fusion, Short toe, Genu valgum, Narrow mouth, Limited elbow ex... OMIM:614078
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Single transverse palm... OMIM:601224
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Variegate Porphyria
Tachycardia OMIM:176200
Jawad Syndrome
Prominent nose, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Absent fourth finger di... OMIM:251255
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Clinodactyly, Sandal gap, Ant... OMIM:617752
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the... ORPHA:93258
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Narrow mouth, Com... ORPHA:363417
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Long philtrum, Anteverted nares, Ab... ORPHA:1825
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Broad nasal tip, Arachnodactyly, Long toe, Large hands, Cleft palate OMIM:300263
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Clinodactyly, Hypogonadism, Narrow mouth, Polydactyly, 2-3 toe syndactyly... OMIM:615984
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Single transverse palmar crease, Prominent nasal tip, Clinodactyly of th... ORPHA:502430
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, Genu valgum, Triangular mouth, ... ORPHA:166024
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia,... OMIM:135750
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Nathalie Syndrome
Abnormal EKG OMIM:255990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Narrow mouth, Clinodactyly of the 5th finger, High palate, Short nose... ORPHA:217385
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Enlarged epiphyses, Cleft palate,... OMIM:184840
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-... OMIM:206920
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Mesomelia, Broad nasal tip, Broad thumb, Clinoda... OMIM:618529
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Synostosis of carpal b... ORPHA:90650
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia OMIM:613205
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Laurin-Sandrow Syndrome
Depressed nasal ridge, Toe syndactyly, Downturned corners of mouth, Underdeveloped nasal alae, Ab... ORPHA:2378
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Broad thumb, ... ORPHA:370010
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Gingival overgrowth, Median cleft palate, Gingival fibro... ORPHA:1832
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Hypogonadism, Epiphyseal stippli... OMIM:302950
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, Polydactyly, Brachydactyly, Syndactyly OMIM:615982
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Thick vermilion b... OMIM:618506
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Preaxial hand polydactyly, Fibular aplasia, Coalescence o... OMIM:165590
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Pfeiffer Syndrome
Choanal atresia, Depressed nasal bridge, Broad thumb, Dental crowding, Finger syndactyly, Short m... OMIM:101600
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Syndactyly, Scapular winging, Cleft palate, Upper limb amyotrophy ORPHA:2901
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Broad thumb, Short 5th toe, Prominent fingerti... OMIM:613684
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Abnormal palate morphology, Long philtrum, Short nose ORPHA:1389
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Single transverse palmar c... OMIM:613443
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Broad nasal tip, Pr... OMIM:252100
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal dental mor... ORPHA:1716
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Pr... ORPHA:380
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Long hallux, Anteverted nares, Tented upper lip vermilion, Thin upper ... OMIM:619854
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Li... ORPHA:401935
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Clinodactyly, Hypogonadotropic hypogonadism, Bifid nose, Cleft palate, Hyposmia OMIM:614838
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Open mouth, Single transverse pa... OMIM:613604
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Hip dislocation, Broad nasal tip, Long philtrum, Thick lower lip vermilion, De... OMIM:619451
Pierpont Syndrome
Broad nasal tip, Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Prominen... OMIM:602342
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na... OMIM:612916
Acrocephalopolydactyly
Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short long bone, Short nose ORPHA:221054
Non-Distal Duplication 10Q
Depressed nasal bridge, Everted lower lip vermilion, Convex nasal ridge, High palate, Short nose ORPHA:1695
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Anencephaly 2
Median cleft upper lip, Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Med... OMIM:241800
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl... OMIM:251450
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Underdeveloped nasal alae, Finger clinodactyly, Serrated i... OMIM:272440
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Wide nasal bridge, 3-4 finger syndactyly, Open mouth, 2-3 toe syndactyly OMIM:600906
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Del... ORPHA:166272
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Anteverted nares, Short nose ORPHA:531
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Cleft palate, Coxa valga, Contracture of the distal interphalangeal j... OMIM:216800
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Summitt Syndrome
Depressed nasal ridge, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacar... ORPHA:3210
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Autosomal Recessive Omodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Elbow dislocation, Long philtrum, Micromelia, Ante... ORPHA:93329
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Depressed nasal bridge, Small hand, Toe syndactyly, Fing... ORPHA:93259
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Short nose, Oligodontia, Thin upper lip vermilion, ... OMIM:616331
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Genu valgum, Thin upper lip vermilion, Hypogonadotropic ... ORPHA:1295
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Wide nasal bridge, Abnormality of the nose, Underdev... ORPHA:1794
Sclerosteosis
Finger syndactyly, Abnormality of the nose, Curved distal phalanges of the hand, 2-3 finger synda... ORPHA:3152
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Brachydactyly, Convex nasal ridge, Short nose, Split hand, Cleft p... ORPHA:2145
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Split foot, Abnormal palate morphology, 2-3 toe syndac... ORPHA:1540
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Short nose ORPHA:228384
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Short n... OMIM:615716
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Down... ORPHA:1327
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Short philtrum, Hip dysplasia, Thin vermilion border, Clinodacty... OMIM:617991
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Anteverted nares, Prominent nasal ... ORPHA:251019
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Narrow mouth, Arachnodactyly, Cleft palate ORPHA:93946
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Short... ORPHA:93328
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Median ... ORPHA:1234
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Coxa v... ORPHA:2557
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h... OMIM:216300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of finger, Abnormal denta... ORPHA:2251
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Monosomy 5P
Wide nasal bridge, High palate, Finger syndactyly, Small hand ORPHA:281
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276556
Edinburgh Malformation Syndrome
Choanal atresia, Slender finger, Ulnar deviation of finger, Downturned corners of mouth, Antevert... ORPHA:1895
Periventricular Nodular Heterotopia 7
Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syn... OMIM:617201
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Op... OMIM:300558
Eem Syndrome
Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Ab... ORPHA:1897
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Cleft lip, Cleft palate OMIM:612370
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Open mouth, Brachy... ORPHA:710
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Open mouth, Nar... OMIM:619356
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno... ORPHA:1515
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Depressed nasal tip, Accessory oral frenulum, Brachydactyly, Osteolysis involving b... ORPHA:88630
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Limb undergrowth,... OMIM:618961
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Bifid uvula, Clin... OMIM:157900
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Open mouth, Tented upper l... OMIM:614744
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Anteverted nares, Testicular atrophy, Clinodactyly of the... OMIM:601163
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Prominent nasal bridge, Single transverse palmar crease, Thin upp... OMIM:613544
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Orofaciodigital Syndrome Xix
Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narrow mouth, High ... OMIM:620107
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Dental crowding, Synostosis of carpal bones, Micromelia, Abnor... ORPHA:3121
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane... ORPHA:163966
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte... OMIM:614701
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Long philtrum, Anteverted nares, Broad philtrum, Ulnar deviation... OMIM:618577
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276575
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short nose ORPHA:1514
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, 2-3 toe syndactyly, Orofacial cl... OMIM:217085
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Bifid nasal tip, Broad nasal tip, Toe syndactyly, Short tibia, Medi... OMIM:258865
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, L... ORPHA:163649
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ... ORPHA:1988
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wide mouth, Short nose ORPHA:2429
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Polydactyly, Talipes equinovarus, Short nose, Cleft palate OMIM:613885
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276580
Craniofrontonasal Dysplasia
Wide nasal bridge, Abnormality of the dentition, Depressed nasal ridge, Finger syndactyly, Sandal... ORPHA:1520
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Cenani-Lenz Syndrome
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndac... ORPHA:3258
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Peho-Like Syndrome
Open mouth, Short nose, Tapered finger OMIM:617507
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Clinodactyly, Ectrodactyly, Cleft upper lip, Tooth agenesis, Hypogonado... OMIM:147950
Al-Raqad Syndrome
Sandal gap, Narrow mouth, Thin upper lip vermilion, Brachydactyly, Short nose OMIM:616459
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Tooth agenesis, Underdeveloped nasal alae, N... ORPHA:1252
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... ORPHA:989
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Short nose, Wide nasal bridge OMIM:612563
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Small hand, Toe syndactyly, Finger syndactyly, Broad thu... ORPHA:93260
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ... ORPHA:1856
Stickler Syndrome Type 1
Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morphology, Short nose... ORPHA:90653
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Short nose ORPHA:2598
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Broad nasal tip, Cleft upper lip, Narrow mouth, 2-3 toe syndacty... OMIM:239800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Narrow mouth, Arachnodactyly, Talipes equinovarus, Camptodactyly,... OMIM:615539
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology... ORPHA:3098
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shap... OMIM:175700
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Oligodontia, Arachnodactyly, Brachydact... OMIM:600325
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Small hand, Toe syndactyly, Broad nasal tip, Downturned corners of mouth,... OMIM:300882
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Abnormal palate morphology, Short nose ORPHA:1495
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Anteverted nares, Epiphy... ORPHA:1914
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Short long bone,... OMIM:614524
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Arachnodactyly, Everted lower lip vermilion, Postaxi... ORPHA:1702
Tetrasomy 18P
Long philtrum, Narrow mouth, Large hands, Thin vermilion border, Short nose ORPHA:3307
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Braddock-Carey Syndrome 2
Clinodactyly, Bulbous nose, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Abnormal upper lip morphology, Anteverted nares, Open mou... ORPHA:2849
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Clinodactyly, Radial deviation of finger, Cleft upper lip, A... OMIM:305400
Bamforth-Lazarus Syndrome
Bilateral choanal atresia, Cleft palate OMIM:241850
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Woods Syndrome
Wide nasal bridge, Limited elbow extension, Single transverse palmar crease, Thin vermilion borde... OMIM:615236
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista... OMIM:300863
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Short columella, Bowing ... ORPHA:171839
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Underdeveloped nasal a... OMIM:184460
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of teeth, Cleft palate OMIM:600252
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Long ... OMIM:604841
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Open mouth, Short nose OMIM:613670
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Deviation of finger, Bilateral cleft palate, Abnormal nasal morph... ORPHA:1104
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short 5th finger, Prominent fingertip pads, Long philtrum, Bulbous nose, Cli... ORPHA:485405
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Preaxial hand polydactyly, Intestinal polyposis, Lymphoid nodular hyperpl... ORPHA:210548
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Short nose OMIM:190440
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Small proximal tibial epiphyses, Small distal femoral e... OMIM:154780
Codas Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor... ORPHA:1458
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Brachydactyly, Short metatarsal,... OMIM:614613
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Radia... OMIM:108721
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Small hand, Delayed eruption of teeth, Long phil... ORPHA:915
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Char Syndrome
Depressed nasal ridge, Depressed nasal bridge, Toe syndactyly, Mesoaxial foot polydactyly, Agenes... ORPHA:46627
Pterygium Colli, Isolated
Short nose OMIM:177990
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Intestinal malrotation, Prominent nose,... OMIM:618316
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cleft upper lip, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Finger joi... OMIM:244200
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Even-Plus Syndrome
Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, Hypo... OMIM:616854
Rapadilino Syndrome
High, narrow palate, Aplasia/Hypoplasia of the radius, Absent thumb, Aplasia/Hypoplasia of the pa... OMIM:266280
Hypomelanosis Of Ito
Clinodactyly, Radial deviation of finger, Thick lower lip vermilion, Hand polydactyly, Irregularl... OMIM:300337
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, Anteverted nares, Th... OMIM:617877
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Sandal gap, Long philtrum, Bulbous no... OMIM:617061
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short nose, Cone-shap... ORPHA:439822
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped... OMIM:615866
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Clinodactyly, Long philtrum, Anteverted nar... OMIM:615583
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, ... OMIM:119580
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced ossification of carpal bones, Advanced tarsal ossification, Limb u... OMIM:269250
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Everte... OMIM:616898
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres... OMIM:608572
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly OMIM:613576
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Baker-Gordon Syndrome
Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose OMIM:618218
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Hip dislocation, S... OMIM:164200
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Hypoplastic scapulae, Short distal phalanx of finger, Metaphyseal cupping... ORPHA:85166
Kbg Syndrome
Long philtrum, Underdeveloped nasal alae, Finger clinodactyly, Macrodontia, Anteverted nares, Pro... ORPHA:2332
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Long philtrum, Thick vermilion border ORPHA:833
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand... ORPHA:94066
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Widely-spaced maxillary central incisors, Cleft palate OMIM:601349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide di... OMIM:613320
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle... ORPHA:2010
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Downturned corners of mouth, Clinodactyly, Widely spac... ORPHA:369891
Filippi Syndrome
Wide nasal bridge, Broad columella, Underdeveloped nasal alae, Finger syndactyly, Prominent nasal... ORPHA:3255
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco... OMIM:613870
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypoplastic ischia, Short nose, Polydactyly OMIM:616910
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Anal atresia ORPHA:1997
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ... ORPHA:364577
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Camptodactyly of finger, Anteverted nares, Femoral bowing, Narrow... ORPHA:83
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Abnormality of the dentition, Short distal phalanx of finger, Finger syndactyly, Camptodactyly of... ORPHA:2994
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Abnormality of the dentition, Sandal gap, Finger syndac... ORPHA:178303
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Short nose, Duodenal ... ORPHA:2547
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Large hands, Clinoda... ORPHA:1699
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Prominent nose, Narrow mouth, Submucous ... OMIM:164220
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Underdeveloped nasal alae, Cleft palate OMIM:611867
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, D... ORPHA:1791
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Prominent... ORPHA:1307
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Broad hallux, Long philtrum, Bulbous nose, Anteverted nares, Tented upper... OMIM:614105
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Genu valgum, Cleft palate, Primary amenorrhea OMIM:614880
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad nasal tip, Broad thumb, Abnormal epiphysis morphology, Micr... ORPHA:1784
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Multiple palmar creases, Short nose OMIM:611936
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Talipes equ... OMIM:619859
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Depressed nasal bridge, Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Camptodac... OMIM:616006
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-... OMIM:613573
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Sandal... ORPHA:217017
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Long philtrum, Aplasia/Hypopla... ORPHA:1358
Bardet-Biedl Syndrome 9
Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydac... OMIM:615986
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long... ORPHA:2756
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoeso... ORPHA:59315
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Narrow mouth, Talipes equinovarus, Bilateral talipes equinovarus, High p... ORPHA:251028
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Bulbous nose, Anteverted nares, Open mouth, Bilateral si... ORPHA:261211
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Clino... ORPHA:391372
Achondrogenesis Type 1B
Micromelia, Long philtrum, Anteverted nares, Talipes equinovarus, Short foot, Short nose ORPHA:93298
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Median cleft upper lip, Absent ... OMIM:142946
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Open mouth, Short nose OMIM:300143
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Fibrochondrogenesis 1
Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Narrow mouth, ... OMIM:228520
Blepharocheilodontic Syndrome 2
Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis OMIM:617681
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Achondrogenesis Type 1A
Micromelia, Long philtrum, Anteverted nares, Short palm, Short foot, Short nose ORPHA:93299
Crane-Heise Syndrome
Depressed nasal bridge, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger syndactyl... ORPHA:1512
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Downturned corners of mouth, ... OMIM:239300
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Hypogonadism, Genu valgum, Thin vermilion border, Short philtrum, Sh... ORPHA:2983
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Camptodactyly, Thin verm... OMIM:610015
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Talipes eq... OMIM:619980
Fetal Hydantoin Syndrome
Depressed nasal ridge, Short distal phalanx of finger, Triphalangeal thumb, Everted lower lip ver... ORPHA:1912
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Depressed nasal bridge, Small hand, Clinodactyly, Anteverted nares, Narrow mouth, Wi... ORPHA:96184
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Abnormality of the nose ORPHA:1681
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Shor... OMIM:616430
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Sandal gap, Bulbous nose, Tented upper lip v... OMIM:618430
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Tessier cleft, Depressed nasal ridge, Broad proximal phalan... OMIM:607597
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Elbow flexion contracture, Furrowed tongue, Bulbous nose, Anteverted ... OMIM:615065
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Ta... OMIM:609638
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, F... OMIM:193700
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Short hallux, Non-midline cleft o... ORPHA:2710
Hartsfield Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Split hand, Non-midline cleft of the up... ORPHA:2117
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, High palate,... OMIM:166250
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Downturned corners of mouth, Long philtrum, Clinodactyly, Anteverted nares, Narro... ORPHA:391408
3P25.3 Microdeletion Syndrome
High, narrow palate, Depressed nasal bridge, Broad thumb, Downturned corners of mouth, Broad hall... ORPHA:435638
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
17Q12 Microduplication Syndrome
Toe syndactyly, Tracheoesophageal fistula, Finger syndactyly, Cleft palate ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Small hypothenar eminence, Dental malocclusion, Delayed eru... ORPHA:2980
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Narrow palm, Amenorrhea, Infertility, Syndactyly ORPHA:1445
Opsismodysplasia
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Brachydactyly, Hypoplastic pu... ORPHA:2746
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Proximal femoral epiphysiolysis, Overlapping toe, Small epiphyses, Tented... OMIM:616723
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Broad hallux, Tented upper lip vermilion, Agan... OMIM:614749
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Short nose, Syndactyly, Cleft lip, Downturned corners of mouth, Brachy... OMIM:616894
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Sandal gap, Cleft upper lip, Broad hallux, Tented upper lip vermil... OMIM:600987
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Tented ... OMIM:619383
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, High pala... OMIM:614069
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure ORPHA:49827
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling, Narrow greater ... OMIM:184250
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Depressed nasal bridge, Aplasia/Hypoplasia of the capital femoral epiphysis... OMIM:215150
Kury-Isidor Syndrome
Finger syndactyly, Long philtrum, Widely spaced teeth, Anteverted nares, Tented upper lip vermili... OMIM:619762
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Distal Deletion 9P
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Brachydactyly, Short nose, ... ORPHA:1642
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth philtrum, Clinodactyly of th... OMIM:618828
Achondrogenesis
Anteverted nares, Micromelia, Long philtrum, Short nose ORPHA:932
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... OMIM:268310
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly ... OMIM:148820
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Tooth agen... ORPHA:570
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Carious teeth, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Teebi-Shaltout Syndrome
High, narrow palate, Wide nasal bridge, Broad nasal tip, Caudal appendage, Underdeveloped nasal a... OMIM:272950
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Depressed nasal bridge, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Fla... ORPHA:1427
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Underdeveloped nasal alae, Cleft palate OMIM:601355
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, 2-3 toe syndactyly, Long fingers, High palate, Short nose, Tapered finger OMIM:218000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirr... OMIM:119800
Atelosteogenesis Type Ii
Wide nasal base, Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral... ORPHA:56304
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Clinodactyly, Proxim... OMIM:217980
Feingold Syndrome
Depressed nasal bridge, Deviation of the 2nd finger, Toe syndactyly, Anteverted nares, Orofacial ... ORPHA:1305
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... ORPHA:2879
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth, Short nose OMIM:615419
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Long philtrum, Open mouth, Th... OMIM:616638
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Anteverted nares, Arachnodactyly, Smooth philtrum, Thin vermilion bo... OMIM:616420
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Slender finger, Preaxial hand polydactyly, Anteverted nares, Deep philtrum, Esop... OMIM:610536
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Long philtrum, Wide mouth, Narrow mouth, Hypodontia, Thick verm... OMIM:620250
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, High palate, Short distal phalanx of the 5th finger, Sh... OMIM:620662
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Narrow nasal... OMIM:236500
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Hypodontia, Radioulnar synostosis, Enamel hypoplasia, Hypoplasia of the radius, Hyp... OMIM:212780
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose OMIM:618774
Weaver Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Camptodactyly of finger, Sandal gap, Talipes equin... ORPHA:3447
Alkuraya-Kucinskas Syndrome
Hand clenching, Depressed nasal bridge, Clinodactyly, Anteverted nares, Overlapping toe, Overlapp... OMIM:617822
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Anal atresia... OMIM:146510
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Wide nose, Hand polydactyly, High palate, Syndactyly OMIM:239710
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Sandal gap, Intestinal malrotation, ... OMIM:617602
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Postaxial foot polydactyly, Cleft palate, Postaxial hand polydactyly OMIM:614120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Down-slopi... ORPHA:1974
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Cleft upper lip, Anteverted nares, Ope... ORPHA:819
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Smooth philtrum, Polydactyly, Syndactyly OMIM:602501
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Fractured radius, Unilateral cleft lip, Flared metaphysis, Decreased fibular d... OMIM:616897
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Depressed nasal bridge, Abnormality of the dentition, Rhizomelia, Delayed ossification... OMIM:271510
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Narrow nasal bridge, Pr... ORPHA:1225
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Short lingual frenulum, Short... OMIM:180700
Sweeney-Cox Syndrome
Wide nasal bridge, Choanal atresia, Short distal phalanx of finger, Broad nasal tip, Velopharynge... OMIM:617746
Baraitser-Winter Syndrome 1
Wide nasal bridge, Long philtrum, Cleft upper lip, Anteverted nares, Thin upper lip vermilion, Or... OMIM:243310
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Deep philt... OMIM:227330
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Frontonasal Dysplasia 3
Tessier cleft, Underdeveloped nasal alae, Cleft palate, Wide nasal bridge OMIM:613456
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ... OMIM:114300
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Prominent nasal bridge, Tented upper lip vermilion, Polydactyly,... ORPHA:313781
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Long philtrum, Short nose OMIM:300887
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal bridge, Joint contracture of the... OMIM:608156
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Downturned corners of mouth, Long philtrum, Bulbous nose, Overlappi... OMIM:618571
Fetal Trimethadione Syndrome
Depressed nasal bridge, High palate, Bilateral single transverse palmar creases, Short nose ORPHA:1913
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Abnormal oral frenulum morphology, Orofacial cleft, D... ORPHA:1752
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Dental crowding, Natal tooth, Long philtru... OMIM:145420
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Metatarsus va... ORPHA:261236
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Short nose OMIM:615042
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Depressed nasal bridge, ... OMIM:129400
Malan Syndrome
Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Coxa valga, Everted lower lip verm... OMIM:614753
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Short nose, Metaphyseal dysplasia OMIM:614732
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Hypoplastic ilia, Micromelia, Long philtrum, Postaxial polydactyly, Brach... OMIM:617895
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Narrow mouth,... OMIM:600920
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Gingival overgrowth, Open mouth, Protruding... ORPHA:561
Dend Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Clinodactyly of the 4th finger, Sho... ORPHA:79134
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the... OMIM:108720
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Underdeveloped nasal alae, Anteverted nares, Overlapping toe, C... OMIM:613026
Myoclonic-Astatic Epilepsy
Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Thick nasal alae, Anteverted nares, ... ORPHA:1942
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... ORPHA:166119
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly, Abnormal palate morphology ORPHA:251046
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten... ORPHA:280200
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Thick upper lip ver... OMIM:612651
Distal Deletion 10Q
Clinodactyly, High palate, Anal atresia, Hip dislocation, Short nose, Prominent fingertip pads, T... ORPHA:96148
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Broad columella, Widely spaced teeth, Open m... OMIM:617865
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Short nose, Wide nasal bridge OMIM:620292
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Downturned corners of mouth, Anteverted nares, Cubitus valgus, Thick vermilion... ORPHA:1185
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Brachydactyly, Short nose, Cleft palate, Wide nose OMIM:614261
Polysyndactyly With Cardiac Malformation
Anteverted nares, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Fetal Alcohol Syndrome
Anteverted nares, Microdontia, Thin upper lip vermilion, Smooth philtrum, Short nose, Non-midline... ORPHA:1915
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Open mouth, Short philtrum, Short nose OMIM:618437
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly... OMIM:611561
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Abnormality of the dentition, Toe syndactyly, Carious teeth, Finger syndactyly... ORPHA:3253
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Prominent nasal bridge, Narrow mouth, Brachydactyly, ... ORPHA:96097
Tularemia
Tachycardia ORPHA:3392
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Dysmenorrhea, Clinodactyly of the 5th finger, Cleft ... ORPHA:397590
Glass Syndrome
Conical tooth, Broad nasal tip, Dental crowding, Long philtrum, Bulbous nose, Narrow nose, Gingiv... OMIM:612313
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Short tibia, Pursed lips, Metaphyseal rarefaction, Bowing of the ... OMIM:601559
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Broad nasal tip, Finger clinodactyly, Preaxial polydactyly... ORPHA:2754
Nicolaides-Baraitser Syndrome
Wide nasal base, Broad 2nd toe, Short lingual frenulum, Everted lower lip vermilion, Short metaca... OMIM:601358
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial... ORPHA:476126
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... ORPHA:1692
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Everted lower lip vermilion, Bilateral ... ORPHA:177907
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Toe syndactyly, Lip pit, Fibrous syngnathia, Finger syndactyly, Thin upper lip v... ORPHA:1300
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Broad nasal tip, Failure of eruptio... OMIM:272460
Peho Syndrome
Tented upper lip vermilion, Open mouth, Short nose, Tapered finger OMIM:260565
Larsen Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Broad distal phalanx of fing... ORPHA:503
Rubinstein-Taybi Syndrome
Wide nasal bridge, Abnormality of the dentition, Clubbing of toes, Carious teeth, Broad thumb, Fi... ORPHA:783
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Intestinal malrotation... ORPHA:1553
Acrocraniofacial Dysostosis
Choanal atresia, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Short distal phala... ORPHA:949
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Ulnar deviation of the hand, Short nose, Narrow naris OMIM:122880
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Irregular dentition, Talipes equinovarus, Small thenar eminence, Ana... OMIM:619148
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology, ... ORPHA:3224
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Small hand, Toe syndactyly, Broad columella, Downturned corners of mouth,... ORPHA:1001
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Absent toe, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Disloca... OMIM:620663
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Mesomelic/rhizom... ORPHA:2839
3C Syndrome
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Intestinal mal... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Downturned corners of mouth, Sandal gap, Widely spaced teeth, Bulbous nose... OMIM:156200
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Short thumb, Underdeveloped nasal alae, Overlapping toe, Abnormal columella ... ORPHA:436003
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Bulbous nose, Oligodont... ORPHA:1787
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius, Hypoplasia of the ulna, Non... ORPHA:246
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Hypodontia, Hip dysplasia, Finger joint hypermobility, Metacarpophalangeal j... ORPHA:544503
Nager Syndrome
Aplasia/Hypoplasia of the radius, Abnormal palate morphology, Aplasia/Hypoplasia of the thumb, Tr... ORPHA:245
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Anteverted nares, Gingival overgrowth... ORPHA:363659
Tarp Syndrome
Wide nasal bridge, Rocker bottom foot, Meckel diverticulum, Clinodactyly, Anteverted nares, Singl... OMIM:311900
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... ORPHA:250999
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Broad nasal ... OMIM:277170
Toluene Embryopathy
Thin vermilion border, Smooth philtrum, Short nose, Tapered finger ORPHA:1920
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi... ORPHA:2753
Goldberg-Shprintzen Megacolon Syndrome
Wide nasal bridge, Aganglionic megacolon, Finger syndactyly, Cleft palate ORPHA:66629
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Anteverted nares, Overlapping toe, Talipes equinovarus, Short h... ORPHA:3309
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Clinodactyly, Sandal gap, Anteverted nares, Narrow mouth, Thin upper lip ... ORPHA:357001
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal metacarpal morphology, Eve... ORPHA:251014
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnormal femoral metaphys... OMIM:200600
Hamamy Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Anteverted nares, Down-sloping shoulders, ... OMIM:611174
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndactyly, Microdonti... OMIM:225060
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Anteverted nares, Prominent... OMIM:605627
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Short toe, Cleft upper lip, Dislocated radial head, In... OMIM:605039
Postaxial Acrofacial Dysostosis
Choanal atresia, Conical tooth, Congenital hip dislocation, Short thumb, Cleft upper lip, Radioul... OMIM:263750
Faciocardiorenal Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum, Hypodontia, Cleft pa... ORPHA:1973
X Small Rings
Toe syndactyly, Long philtrum, Upper limb undergrowth, Anteverted nares, Lower limb undergrowth, ... ORPHA:96201
Weiss-Kruszka Syndrome
Anteverted nares, Exaggerated cupid's bow, Single transverse palmar crease, Clinodactyly of the 5... OMIM:618619
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ... ORPHA:261144
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Finger syndactyly, Open bite, Anodontia, Hip dislocation, Short nose, Wide nos... ORPHA:3107
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Bilateral single tran... ORPHA:2083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614207
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Tented upper lip vermilion, Acetabular dysplasia, Exaggerated cupid's bow... OMIM:619833
Perrault Syndrome 4
Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian in... OMIM:615300
Acrocardiofacial Syndrome
Wide nasal bridge, Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, S... ORPHA:2008
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Preaxial hand polydactyly, Hypogonadism, Bulbous nose, H... ORPHA:2316
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Syndactyly, Clinodactyly, Widely spaced teeth OMIM:619092
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Long philtrum, 2-4 toe cutaneous syndac... OMIM:607330
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Short nose ORPHA:99688
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Prominent nasal bridge, Orofacial cleft, Everted l... ORPHA:65286
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Thick low... ORPHA:560
Stolerman Neurodevelopmental Syndrome
Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Prominent nasal bridge, Thick ... OMIM:618505
Cri-Du-Chat Syndrome
Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Thick lower lip vermilion, High axia... OMIM:123450
Bainbridge-Ropers Syndrome
Hand clenching, Arachnodactyly, Everted lower lip vermilion, High palate, Short nose, Broad nasal... OMIM:615485
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Broad nasal tip, Short lingual frenulum, M... ORPHA:1521
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Premature ventri... OMIM:300855
ERI1-related disease
Depressed nasal bridge, Velopharyngeal insufficiency, Dislocated radial head, Slender metacarpals... OMIM:608739
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Polydactyly, Deep philtrum,... ORPHA:314655
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow mouth, Short clavicles, Narrow nasal ridge, Acroosteolysis of distal phal... OMIM:608612
Bcard Syndrome
Abnormality of the dentition, Contracture of the proximal interphalangeal joint of the 2nd finger... OMIM:612394
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Tooth malposit... OMIM:269500
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Tarsal synostosis, Absent phalangeal crease, Cleft palate OMIM:618469
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Choanal atresia, Downturned corners of mouth, Short nose, Short ... ORPHA:2409
Waardenburg Syndrome Type 1
Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Tented upper lip vermilion, Agangl... ORPHA:894
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle... OMIM:616738
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, High palate, Short foot, Short metacarpal, Bulbous nose, Oligodontia,... OMIM:170390
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Choanal atres... OMIM:305450
Chromosome 16P13.3 Duplication Syndrome
Small thenar eminence, Hip dislocation, Short nose, Wide nose, Short toe, Bulbous nose, Thin uppe... OMIM:613458
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Long philtrum, Finger clinodactyly, Narrow mouth, Thin upper lip vermilio... OMIM:601353
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Choanal stenosis, ... ORPHA:1790
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum ORPHA:79113
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v... OMIM:615803
Orofaciodigital Syndrome Type 1
Finger syndactyly, Open bite, Foot polydactyly, Tarsal synostosis, High palate, Accessory oral fr... ORPHA:2750
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Short nose ORPHA:1129
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Natal tooth, Micromelia, Long hallux, Gingival overgrowt... OMIM:259775
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Broad phalanx, High palate, Short metacarpal, Short nose, Depressed nasal ridge... OMIM:271665
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou... ORPHA:392
White Forelock With Malformations
Clinodactyly of the 5th finger, Deep philtrum, Finger syndactyly, Abnormal palate morphology ORPHA:2475
Opsismodysplasia
Hypoplastic ischia, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Long philtrum, Antev... OMIM:258480
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydac... OMIM:615503
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Underdeveloped nasal alae, Finger synd... ORPHA:284160
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Narrow mouth, Humeroradial synostosis, Decreased fertility, A... ORPHA:95699
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Exaggerated cupid's bo... OMIM:614230
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Wide nasal bridge, Bifid uvula, Narrow naris, 3-4 t... ORPHA:1449
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Congenital hip dislocation, Underdevelop... OMIM:616007
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Finger syn... ORPHA:1071
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares,... OMIM:300912
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, M... ORPHA:97360
Geleophysic Dysplasia 1
Wide nasal bridge, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with r... OMIM:231050
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Anteverted nares, Clinodactyly of the 5th finger, Glossoptosis, Short ... ORPHA:2031
Aase-Smith Syndrome I
Slender finger, Talipes equinovarus, Open mouth, Cleft palate OMIM:147800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Short nose, Syndactyly OMIM:618087
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, 2-3 finger syndactyly ORPHA:1338
Kyphomelic Dysplasia
Depressed nasal bridge, Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumbbell-s... OMIM:211350
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip verm... OMIM:247200
Normosmic Congenital Hypogonadotropic Hypogonadism
Depressed nasal bridge, Abnormality of the dentition, Male hypogonadism, Non-obstructive azoosper... ORPHA:432
Blomstrand Lethal Chondrodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Natal tooth, Aplastic clavicl... ORPHA:50945
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Choanal atresia, Depressed nasal bridge, Absent cupid's bow, Bulbous nose, Celiac disease, Short ... ORPHA:284169
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Intellectual Disability-Strabismus Syndrome
Abnormality of the dentition, Depressed nasal bridge, Joint contracture of the hand, Prominent no... ORPHA:363528
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Rudimentary fibula, Ru... ORPHA:958
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Broad columella, Underdeveloped nas... ORPHA:217346
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac... OMIM:311200
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Down Syndrome
Narrow mouth, Bilateral single transverse palmar creases, Open mouth, Protruding tongue, Decrease... ORPHA:870
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Everted lower lip vermilion, High palate, Pierre-Robin sequence... OMIM:608670
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Finger syndactyly, Preaxial hand polyd... ORPHA:261318
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, Bilateral single transverse palmar creases, Adducted thumb, Short nose ORPHA:50810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, Long philtrum,... OMIM:615398
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Short foot, Short nose, Choanal atresia, Downturned corners of mouth, N... OMIM:301044
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Esophageal varix, Syndactyly OMIM:616589
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Broad thumb, Prominent nasal bridge, Broad hallux phalanx, Thin vermilion bord... ORPHA:251071
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae, Anteverted ... OMIM:616835
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Abnormality of the dentition, Short distal phalanx of finger, Narr... ORPHA:90154
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
3Q29 Microduplication Syndrome
Wide nasal bridge, Abnormality of the dentition, Toe syndactyly, Sandal gap, Camptodactyly of toe... ORPHA:251038
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Triphalangeal thumb, Ro... ORPHA:3078
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Finger syndactyly, Aplasia/Hypoplasia of the t... ORPHA:193
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Au-Kline Syndrome
Bifid uvula, Bifid nasal tip, Dental malocclusion, Downturned corners of mouth, Underdeveloped na... OMIM:616580
Oliver Syndrome
Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Camptodacty... ORPHA:2920
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Abnormal nasopharynx morpholog... OMIM:607323
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Finger syndactyly, Long philtrum, Sandal gap, Narrow nasal bridge, Anteverted n... ORPHA:254346
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Furrowed tongu... ORPHA:464738
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal, Recta... OMIM:303600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Macroglossia, Short nose OMIM:242860
Saethre-Chotzen Syndrome
Depressed nasal bridge, Broad thumb, Finger syndactyly, Open bite, Prominent nasal bridge, Bilate... ORPHA:794
Trisomy 8P
Short fifth metatarsal, Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory trac... ORPHA:264450
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Delayed eruption of teeth, Slender long bone, Narrow nose, Promin... OMIM:601812
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Downturned corners of mouth, Long philtrum, Finger syndactyly, Camptod... ORPHA:2215
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Depressed nasal bridge, 2-3 toe cutaneous syndactyly, Cleft lip, Bulbous nose,... OMIM:618454
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab... ORPHA:558
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Cleft palate, Polydactyly OMIM:607361
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension ORPHA:71273
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Smooth philtrum, Thin vermilion border, High palate, Short nose OMIM:601853
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Downturned corners of mouth, Slender long bone, Thin upper lip vermilion,... OMIM:618590
Laurence-Moon Syndrome
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases ORPHA:2377
Limb-Mammary Syndrome
Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Submucous cleft soft palate, Primary amenor... ORPHA:69085
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Narrow mouth, Humeroradial synostosis, Talip... OMIM:251230
Holoprosencephaly 3
Bifid uvula, Depressed nasal bridge, Cleft lip, Abnormality of the nose, Proboscis, Single naris,... OMIM:142945
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Toe syndactyly, Finger syndactyly, Hand polydactyly, Foot polydactyly, Wi... ORPHA:60040
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Congenital hip dislocation, Cubitus valgus, High palat... OMIM:104350
Peho Syndrome
Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Anteverted nares, Abnormal palate... ORPHA:2836
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp... OMIM:174300
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Bulbous n... ORPHA:46059
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Overlapping toe, High palate, Short nose, Depressed nasal ridge, Nar... OMIM:618332
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Clinodactyly, Diastema, Thick lower lip vermilion, Radial deviation of fi... OMIM:301040
Cantú Syndrome
Wide nasal bridge, Short distal phalanx of finger, Finger syndactyly, Long philtrum, Anteverted n... ORPHA:1517
Apert Syndrome
Bifid uvula, Choanal atresia, Depressed nasal bridge, Toe syndactyly, Delayed eruption of teeth, ... ORPHA:87
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Mesomelia, Finger syndactyly, Micromelia, Aplasia/Hypoplasia of the thumb, Non... ORPHA:1908
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi... OMIM:614921
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Talipes equinovarus, Hand polydactyly, Cleft palate, Syndactyly OMIM:217100
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Narrow mouth, Bowing ... ORPHA:536471
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Unilateral cleft lip, Depressed nasal tip, Midline d... OMIM:610828
Kbg Syndrome
Radial deviation of finger, Long philtrum, Underdeveloped nasal alae, Macrodontia, Anteverted nar... OMIM:148050
Neu-Laxova Syndrome 2
Depressed nasal ridge, Toe syndactyly, Finger syndactyly, High palate, Rocker bottom foot, Cleft ... OMIM:616038
Harel-Yoon Syndrome
Short nose, Hip dysplasia OMIM:617183
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Long philtrum, Tented upper lip vermilion, Single transverse palmar c... ORPHA:521426
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Microdontia, Abnormal fibu... ORPHA:1812
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cutaneous syndactyly, Cleft palate ORPHA:2890
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Cleft upper lip, Preaxial hand ... OMIM:603671
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, High pa... OMIM:219200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Hip dislocation, Short nose OMIM:608776
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Single transverse palmar crease, 2-3 finge... ORPHA:2437
Ohdo Syndrome, Sbbys Variant
Depressed nasal bridge, Bulbous nose, Long hallux, Long thumb, Microdontia, Thin upper lip vermil... OMIM:603736
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Talipes equinovarus, Short nose, Narrow pelvis bon... OMIM:608022
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Anal atresia, Cleft palate, Syndactyly OMIM:220210
Prolidase Deficiency
Concave nasal ridge, Depressed nasal bridge, High palate, Short nose OMIM:170100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Hypoplastic scapulae, Congenital hip dislocation, Finger syndactyly, Clef... OMIM:308050
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Abnormal dental enamel morphology, Short middle ph... ORPHA:1005
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Intestinal pseudo-obstruction, Long philtrum, Arachnodactyly, ... ORPHA:73246
Adult Syndrome
Wide nasal bridge, Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Abnormal dent... ORPHA:978
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Rothmund-Thomson Syndrome, Type 3
Depressed nasal bridge, Short distal phalanx of finger, Anteverted nares, Talipes equinovarus, Sh... OMIM:615789
Joubert Syndrome 33
Syndactyly OMIM:617767
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Long philtrum, Gingival overgrowth, Prominent nasal bridge, Protruding tongue,... OMIM:619179
Catel-Manzke Syndrome
Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Talipes equinovarus, ... OMIM:616145
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Depressed nasal bridge, Short thumb, Delayed eruption of ... OMIM:268400
Silver-Russell Syndrome 1
Downturned corners of mouth, Clinodactyly of the 5th finger, Short distal phalanx of the 5th fing... OMIM:180860
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Abnormal ilium morphology, Short distal phalanx of finger,... OMIM:614080
Desmosterolosis
Hypoplastic nasal bridge, Joint contracture of the hand, Rhizomelia, Anteverted nares, Alveolar r... OMIM:602398
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Short nose ORPHA:2143
Lethal Acantholytic Erosive Disorder
Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ... ORPHA:158687
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Coffin-Siris Syndrome 4
Wide nasal bridge, Depressed nasal bridge, Short 5th finger, Everted upper lip vermilion, Long ph... OMIM:614609
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... ORPHA:2315
Adenylosuccinase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Wide mouth, Short nose OMIM:103050
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Congenital hip dislocation, Carious teeth, Diastema, Intestinal malrotati... OMIM:244450
Fg Syndrome Type 1
Choanal atresia, Abnormal large intestine morphology, Dental crowding, Finger syndactyly, Long ph... ORPHA:93932
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Ayme-Gripp Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Narrow mo... OMIM:601088
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Short toe, Prominent nasal bridge, Advanced ... ORPHA:1519
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
2-3 toe cutaneous syndactyly, Narrow mouth, Down-sloping shoulders, Long fingers, Long nose, High... OMIM:301091
Trisomy 10P
Depressed nasal bridge, Abnormality of the nose, Abnormal lip morphology, Thumb contracture, Shor... ORPHA:171929
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Meckel diverticulum, Short nose ORPHA:163961
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short distal phalanx of finger, Short nose OMIM:277450
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Depressed nasal bridge, High palate, Syndactyly OMIM:614520
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Long philtrum, Micromelia, Broad hallux, Single transverse palmar crease, Brachydacty... OMIM:614800
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, Postaxial polydactyly... OMIM:617527
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Tarsal synostosis, Aganglionic megacolon, Ectopic ... ORPHA:2473
Desmosterolosis
Bifid uvula, Depressed nasal bridge, Abnormality of the nose, Micromelia, Intestinal malrotation,... ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Abnormal thumb morphology, Abnormal palat... ORPHA:2719
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Dysplasia of the femoral head, Arachnodactyly, Talipes equinovarus, Radioulnar syn... ORPHA:536467
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Short distal phalanx of finger, Broad nasal tip, Nasal congestion, Thick n... ORPHA:79345
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Dental crowding, Finger syndactyly, Single transverse palmar crease, Thin upper lip vermilion, Ca... ORPHA:435938
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Abnormality of the dentition, Microglossia, Flared metaphysis, Aplasia/Hypoplasi... OMIM:151050
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Anal atresia, S... OMIM:263650
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Tapered toe, Dental crowding, Slender long bone, Shoulder flexion contracture,... OMIM:620369
Geleophysic Dysplasia 2
Cone-shaped epiphysis, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short palm, Shor... OMIM:614185
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Macroglossia, Short nose OMIM:613038
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate, Cleft upper lip, Hypogonadism OMIM:615849
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip... ORPHA:363611
Tarp Syndrome
Wide nasal bridge, Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal ra... ORPHA:2886
C Syndrome
Depressed nasal bridge, Toe syndactyly, Micromelia, Long philtrum, Dislocated radial head, Anteve... ORPHA:1308
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Malrotation of small bowel, Cleft lip, Long philtrum, Narrow mouth, Thin upper li... ORPHA:2953
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Increased f... OMIM:619005
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose OMIM:613735
Macrocephaly/Autism Syndrome
Depressed nasal bridge, High palate, Long philtrum, Short nose OMIM:605309
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Anteverted nares, Hypoplasia of teeth, Short nose OMIM:234050
Marshall-Smith Syndrome
Irregular dentition, Bullet-shaped middle phalanges of the hand, High palate, Short nose, Choanal... OMIM:602535
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wide nose ORPHA:1394
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, Short nose, H... OMIM:615873
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Aplastic clavicle, Choanal atresia, Bifid uvula, Finger syndactyly, Abnormal... ORPHA:2658
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Thin upper lip vermilion, Deep philtrum, High palate, Short nose ORPHA:329178
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Talipes equinovarus, Radioulnar ... OMIM:134780
Jacobsen Syndrome
Wide nasal bridge, Toe clinodactyly, Hip dislocation, Toe syndactyly, Broad columella, Long philt... ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Clinodactyly, Bulbous nose, Narrow mouth, Single transverse p... OMIM:614114
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Natal tooth, Volvulus, Short nose OMIM:617802
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Limb undergrowth, High palate, Hip dislocation, Short nose OMIM:618005
Bardet-Biedl Syndrome 1
High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Hyp... OMIM:209900
Trisomy 18
Choanal atresia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Narr... ORPHA:3380
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Open bite, Bulbous nos... OMIM:115150
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Long philtrum, Limited elbow ... OMIM:258315
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, Broad nasal tip, Long philtrum, Anteverted nares, Smoo... ORPHA:357074
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Small hand, Broad nasal tip, Clinodactyly, Long philtrum, Thick lower lip... OMIM:309590
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Narrow palate, Downturned corners of mouth, Short nose OMIM:614222
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Clinodactyly of the 4th toe... OMIM:614225
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture of the proxim... ORPHA:457279
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Short columella, Aganglionic megacolon, Talipes equinovarus, Short philtrum, S... OMIM:613603
Jaberi-Elahi Syndrome
Depressed nasal bridge, Hand clenching, Triangular mouth, Talipes equinovarus, Short nose OMIM:617988
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Craniofrontonasal Syndrome
Wide nasal bridge, Abnormality of the dentition, Bifid nasal tip, Toe syndactyly, 3-4 finger synd... OMIM:304110
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Delayed eruption o... OMIM:119600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Cleft upper lip, Hyperextensibility of the finger joints, Anteverted nares, Gi... OMIM:213980
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Oro... ORPHA:1647
Prader-Willi Syndrome
Small hand, Carious teeth, Radial deviation of finger, Clinodactyly, Downturned corners of mouth,... OMIM:176270
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Triploidy
Finger syndactyly, Intestinal malrotation, Narrow mouth, Macroglossia, Wide mouth, Non-midline cl... ORPHA:3376
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Finger syndactyly, Long philtrum, Camptodactyly of finger, Anteverted nar... ORPHA:2311
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru... OMIM:620568
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Underdeveloped nasal alae, Long ... OMIM:604173
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Clinodactyly, Long philtrum, Thin upper lip vermilion, Tapered fin... ORPHA:319182
Monosomy 9P
Abnormality of the dentition, Choanal atresia, Depressed nasal bridge, Long philtrum, Anteverted ... ORPHA:261112
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Rectovestibular fistula, Small hand, Proportionate shortening of all digits, Promi... ORPHA:280633
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Long philtrum, Prominent nasal bridge, Smooth philtrum, High ... OMIM:300749
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Wide nasal bridge, Congenital hip dislocation, Toe syndactyly, Broad thumb, ... ORPHA:373
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Radiou... ORPHA:199
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Dental crowding, Downturned corners of mouth, Clinodactyly, Esophagitis, Nar... ORPHA:96182
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anteverted nares, Midline defect of the nose, Short hard palate, Genu varum ORPHA:1969
Frontofacionasal Dysplasia
Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Midline defect of the nose, Orofacial cl... OMIM:229400
Arterial Tortuosity Syndrome
Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Esophagitis, Median clef... ORPHA:3342
Cerebrofacioarticular Syndrome
Wide nasal bridge, Anal stenosis, Caudal appendage, Anteriorly placed anus, Bilateral choanal atr... ORPHA:314679
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Depressed nasal bridge, Anal stenosis, Downturned corners of mouth,... OMIM:620029
Mirizzi Syndrome
Tachycardia ORPHA:521219
Multiple Pterygium Syndrome, Escobar Variant
Ulnar deviation of finger, Dental malocclusion, Downturned corners of mouth, Long philtrum, Dislo... OMIM:265000
Graft Versus Host Disease
Tachycardia ORPHA:39812
Alg9-Cdg
Depressed nasal bridge, Rhizomelia, Bifid uvula, Flared metaphysis, Underdeveloped nasal alae, Lo... ORPHA:79328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Micro Syndrome
Wide nasal bridge, Anteverted nares, High palate, Short philtrum, Short nose ORPHA:2510
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Narrow mouth, Open mo... OMIM:613406
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Hyposmia, Hypogo... ORPHA:2250
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Hip dysplasia ORPHA:496790
Holoprosencephaly 9
Choanal atresia, Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Downturned corners... OMIM:610829
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Hypogonadotropic hypogonadism, ... OMIM:301030
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Narrow mouth, Protruding tongue, Smooth philtrum, Adducted thumb, Thick verm... OMIM:608779
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Eec Syndrome
Choanal atresia, Carious teeth, Xerostomia, Toe syndactyly, Finger syndactyly, Tooth agenesis, Ab... ORPHA:1896
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Long philtrum, Anteverted nares, Triangular mouth, Short sternum, Short n... OMIM:257300
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Aplasia of the dista... ORPHA:3472
Microphthalmia With Brain And Digit Anomalies
High palate, Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly ORPHA:139471
Aymé-Gripp Syndrome
Depressed nasal bridge, Reduced arm span, Long philtrum, Narrow mouth, Oligodontia, Thin upper li... ORPHA:1272
Monosomy 22
Finger syndactyly, Long philtrum, Open mouth, Single transverse palmar crease, Clubbing, Thin ver... ORPHA:96123
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Broad nasal tip, Denta... OMIM:617157
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Stickler Syndrome
Open bite, Genu valgum, Arachnodactyly, Short hard palate, Hip dislocation, Protrusio acetabuli, ... ORPHA:828
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Anteverted nares, Tented upper lip vermil... ORPHA:261494
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Hip subluxation, Long philtrum, Narrow mout... OMIM:613457
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, In... OMIM:601707
Chops Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Anteverted nares, Brachydactyly,... OMIM:616368
Doors Syndrome
Wide nasal base, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2... ORPHA:79500
Focal Dermal Hypoplasia
Abnormality of the dentition, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac... ORPHA:2092
Lacrimoauriculodentodigital Syndrome
Carious teeth, Xerostomia, Toe syndactyly, Finger syndactyly, Clinodactyly, Syndactyly, Choanal a... ORPHA:2363
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Depressed nasal bridge, Dental crowding, Long philtrum, Bulbous nose, Prominent nasal bridge, Ope... OMIM:620654
Ring Chromosome 12 Syndrome
High, narrow palate, Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Sy... ORPHA:1439
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Increased density of long bones, Short 1s... OMIM:269150
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Microphthalmia, Lenz Type
Abnormality of the dentition, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of fing... ORPHA:568
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Short sternum, Short nose OMIM:222448
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Small hand, Syndactyly OMIM:616489
Monosomy 9Q22.3
Palmar pits, Delayed eruption of teeth, Long philtrum, Narrow mouth, Polydactyly, Orofacial cleft... ORPHA:77301
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Palmoplantar keratoderma, Long philtrum, Anteverted nares, Genu valgum, S... ORPHA:1340
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Cleft soft palate, Submucous cleft soft palate, Short nose ORPHA:2282
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Wide nasal bridge, Broad nasal tip, Carious teeth, Short thumb, Downturned corn... OMIM:619522
Dubowitz Syndrome
Wide nasal bridge, Carious teeth, Broad nasal tip, Delayed eruption of teeth, Velopharyngeal insu... OMIM:223370
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Anteverted nares, Protruding tongue, Everted lower lip vermilion, Ma... ORPHA:96147
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Narrow mouth, Talipes equinovarus, High palate, Dislocated r... OMIM:180849
Toriello-Carey Syndrome
Clinodactyly, Anteriorly placed anus, Abnormal palate morphology, Aganglionic megacolon, Brachyda... ORPHA:3338
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Everted upper lip vermili... OMIM:305100
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Broad thumb, Long philtrum, Anteverted nares, Intestinal pol... ORPHA:109
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Finger syndactyly,... ORPHA:2907
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Hip dislocation, C... ORPHA:818
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Agenesis of permanent teeth, Abnormal oral frenul... ORPHA:1401
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Hypogonadotropic hypogonadism, Primary ... OMIM:603457
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Talipes equinovarus, 2-3 finger syndactyly, Broad ... OMIM:312870
Bloom Syndrome
Recurrent upper respiratory tract infections, Prominent nose, Azoospermia, Hand polydactyly, Agen... OMIM:210900
Meier-Gorlin Syndrome 7
Choanal atresia, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Dislocated radial head... OMIM:617063
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Anteverted nares, Narrow mouth, Open mouth, ... OMIM:608013
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt... OMIM:619321
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... OMIM:232300
White-Kernohan Syndrome
Depressed nasal bridge, Anteriorly placed anus, Underdeveloped nasal alae, Anteverted nares, Tent... OMIM:619426
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal morphology, B... ORPHA:974
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Rhizomelia, Clinodactyly, Widely spaced tee... OMIM:613610
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Exaggerated median tongue furrow, Downt... ORPHA:2729
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, 2-3 toe syndac... ORPHA:522077
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Wide nasal bridge, Depressed nasal ridge, Broad thumb, Finger syndactyly, Long philtrum, Preaxial... ORPHA:2211
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Hartsfield Syndrome
Cleft upper lip, Ectrodactyly, Wide nose, Median cleft upper lip, Cleft palate, Syndactyly OMIM:615465
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Aganglionic megacolon, Brachydactyly, Short palm, Short nose ORPHA:3339
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Underdeveloped nasal alae, Short ... ORPHA:264200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L... ORPHA:308552
Zttk Syndrome
Wide nasal bridge, Bifid uvula, Abnormality of the dentition, Depressed nasal bridge, Small hand,... OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Broad nasal tip, Short 5th toe, 2-4 toe cutaneous syndactyly, Underdeveloped na... ORPHA:268261
Schinzel-Giedion Syndrome
Overlapping toe, Overlapping fingers, Streak ovary, Radioulnar synostosis, High palate, Short nos... ORPHA:798
Acrocephalopolydactylous Dysplasia
Micromelia, Hypoplastic colon, Postaxial hand polydactyly, Hypoplasia of the small intestine, Sho... OMIM:200995
Mosaic Trisomy 16
Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly placed anus, Clinodactyly... ORPHA:1708
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Popliteal Pterygium Syndrome
Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Tal... OMIM:119500
Meckel Syndrome 14
Postaxial foot polydactyly, Anteverted nares, Bowing of the long bones, Postaxial polydactyly, Po... OMIM:619879
Pontocerebellar Hypoplasia, Type 2E
Short nose, Wide nose OMIM:615851
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Hypogonadism, Short nose, Intestinal obstruction OMIM:601675
Degcags Syndrome
Toe syndactyly, Genu valgum, Protruding tongue, Talipes equinovarus, Chordee, High palate, Hemihy... OMIM:619488
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Convex nasal ridge, High palate, Wide mouth, Short nose OMIM:300661
Craniotubular Dysplasia, Ikegawa Type
Wide nasal bridge, Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip ... OMIM:619727
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Long philtrum, Camptodactyly of finger, Hypogonadism, Orofacial cleft, High pa... ORPHA:2990
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Cleft upper lip, Enlarged naris, Intestina... OMIM:249000
Peters Plus Syndrome
Depressed nasal bridge, Rhizomelia, Toe syndactyly, Short toe, Intestinal fistula, Long philtrum,... ORPHA:709
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,... ORPHA:110
Deeah Syndrome
Narrow palate, Long philtrum, Overlapping fingers, Narrow mouth, Prominent nasal tip, High palate... OMIM:619004
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Intestinal malrotation, Short columella, Narrow mouth, Thin upper lip vermilion, H... OMIM:601776
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... OMIM:230740
Adams-Oliver Syndrome 5
Brachydactyly, Esophageal varix, Syndactyly OMIM:616028
Grange Syndrome
Brachydactyly, Finger clinodactyly, Syndactyly OMIM:602531
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Brachydactyly, Clinodactyly of the 5th finger, U-Shaped... OMIM:147791
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia OMIM:620475
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Tracheoesophageal... ORPHA:887
Hennekam Syndrome
Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Delayed eruption of t... ORPHA:2136
Neu-Laxova Syndrome 1
Depressed nasal ridge, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Cleft up... OMIM:256520
Cadds
Short nose ORPHA:369942
Focal Dermal Hypoplasia
Toe syndactyly, Foot polydactyly, Short metacarpal, Broad nasal tip, Narrow nasal bridge, Cleft a... OMIM:305600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Choanal atresia, Cleft lip, Furrowed tongue, Bulbous nose, Anteverted nare... OMIM:616975
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Bifid uvula, Toe clinodactyly, Broad nasal tip, Sandal gap, Long philtrum, Thi... OMIM:620330
Fraser Syndrome 2
Underdeveloped nasal alae, Intestinal malrotation, Narrow mouth, Cutaneous syndactyly, Rectal atr... OMIM:617666
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Hip subluxation, Downturned corners of mouth, Long philtrum, Hypoplasia of proximal r... ORPHA:444077
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr... ORPHA:280365
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Palmoplanta... ORPHA:2908
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Streak ovary, Aplasia of the nasal bone, Jejunal atresia, Chordee, ... OMIM:618820
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Fraser Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Toe syndactyly, Dental malocclusion, De... ORPHA:2052
Neurocardiofaciodigital Syndrome
Overhanging nasal tip, Polydactyly, Thin vermilion border, High palate, Syndactyly OMIM:619869
Khan-Khan-Katsanis Syndrome
Clinodactyly, Tented upper lip vermilion, Triangular mouth, Postaxial polydactyly, Short nose OMIM:618460
Fontaine Progeroid Syndrome
High, narrow palate, Depressed nasal bridge, Short distal phalanx of finger, Long philtrum, Anter... OMIM:612289
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Anal atresia, Rectovagi... OMIM:107480
Methylcobalamin Deficiency Type Cble
Clinodactyly, Syndactyly ORPHA:2169
1P21.3 Microdeletion Syndrome
Broad nasal tip, Wide mouth, Short nose ORPHA:293948
Fraser Syndrome 3
Cutaneous syndactyly, Short toe, Convex nasal ridge, Wide nose OMIM:617667
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Monosomy 13Q14
Wide nasal bridge, Finger syndactyly, Prominent nasal bridge, Aplasia/Hypoplasia of the thumb, Br... ORPHA:1587
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic megacolon, Postaxial hand pol... OMIM:236700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology ORPHA:3384
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Wide nasal bridge, Short uvula, Ankyloglossia, Bulbous nose, Anteverted nare... OMIM:619475
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... OMIM:216340
Scalp-Ear-Nipple Syndrome
Depressed nasal bridge, Bifid uvula, Broad thumb, Finger syndactyly, Agenesis of permanent teeth,... OMIM:181270
Vater/Vacterl Association
Choanal atresia, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Tracheoesophageal fist... OMIM:192350
Coffin-Siris Syndrome 12
Depressed nasal bridge, Slender finger, Broad thumb, Hip subluxation, Velopharyngeal insufficienc... OMIM:619325
Noonan Syndrome 3
High palate, Anteverted nares, Short nose, Hypoplastic nasal bridge OMIM:609942
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Narrow naris, Abnormal metacarpal morphology, Absent radius, High palate, Syndactyl... OMIM:268300
Molybdenum Cofactor Deficiency, Type B
Short nose, Long philtrum, Thick vermilion border OMIM:252160
Incontinentia Pigmenti
Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnor... ORPHA:464
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Peters-Plus Syndrome
Square pelvis bone, Short lingual frenulum, Limited elbow movement, Short foot, Short metacarpal,... OMIM:261540
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cleft soft palate, Narrow mouth, Hip contracture, High palate, Shor... OMIM:619503
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Bulbous nose, An... OMIM:618164
Microphthalmia, Syndromic 6
Bifid uvula, Female hypogonadism, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contract... OMIM:607932
Molybdenum Cofactor Deficiency, Type A
Short nose, Long philtrum, Thick vermilion border OMIM:252150
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... ORPHA:2911
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Arrhythmia, Ven... ORPHA:254892
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Broad thumb, Prominent nasal septum, High palate, Syndactyly, Avascul... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Broad thumb, Prominent nasal septum, High palate, Syndactyly, Avascul... ORPHA:353277
Trichorhinophalangeal Syndrome, Type Ii
Wide nasal bridge, Recurrent upper respiratory tract infections, Carious teeth, 2-4 toe syndactyl... OMIM:150230
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Peroxisome Biogenesis Disorder 4B
Single transverse palmar crease, Short nose OMIM:614863
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Everted lower lip vermilion, Anal atresia, Short foot, Hi... OMIM:601803
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Orofacial cleft, Short lower limbs, Abnormality of the upper limb ORPHA:1556
Mowat-Wilson Syndrome
Tooth malposition, Genu valgum, Open mouth, Prominent nasal tip, Chordee, Everted lower lip vermi... ORPHA:2152
Aspartylglucosaminuria
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Gingival overgrowth, Abnormal mor... ORPHA:93
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Absent thumb, Downturned corners of mouth... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Chordee, Syndactyly, Dep... ORPHA:261537
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Depressed nasal bridge, Cleft lip, Bilateral choanal atresia, Median pseudocleft... OMIM:616462
Williams Syndrome
Carious teeth, Open bite, Genu valgum, Radioulnar synostosis, Everted lower lip vermilion, Rectal... ORPHA:904
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy OMIM:309801
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Clinodact... OMIM:309800
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Protrusio acetabuli, Absent distal phalanges, Arachno... OMIM:610168
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Chordee, Syndactyly, Dep... ORPHA:261552
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Bulbous nose, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th... OMIM:620025
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype... ORPHA:99125
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Left v... ORPHA:365
Williams-Beuren Syndrome
Depressed nasal bridge, Colonic diverticula, Broad nasal tip, Dental malocclusion, Long philtrum,... OMIM:194050
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Penile Agenesis
Depressed nasal bridge, Tracheoesophageal fistula, Rectal fistula, Bilateral talipes equinovarus,... ORPHA:49
Proteus Syndrome
Macrodactyly, Depressed nasal bridge, Carious teeth, Finger syndactyly, Tooth agenesis, Abnormal ... ORPHA:744
Traboulsi Syndrome
Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Prominent nose, Prominent nasal bri... OMIM:601552
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Narrow mouth, Short nose OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Depressed nasal bridge, Broad thumb, Anteverted nares, Polydactyly, Broad first metatarsal, Posta... OMIM:619534

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 Asph

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 Asph.

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

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MGI Allele Allele Type Produced
Asphtm238320(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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