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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
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Dental malocclus... OMIM:601552

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
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
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia OMIM:241000
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... OMIM:300577
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Depressed nasal ... ORPHA:2935
Syngnathia
Cleft palate OMIM:119550
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, High palate, Short ph... ORPHA:217340
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Charlie M Syndrome
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen... ORPHA:1406
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ... ORPHA:969
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... OMIM:225280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, Hig... ORPHA:261120
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
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
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p... OMIM:300484
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Thin vermilion border, Abnor... ORPHA:2370
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres... ORPHA:1248
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Clinodacty... ORPHA:376
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... ORPHA:957
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Orofaciodigital Syndrome Xi
Cleft palate, Bulbous nose, Wide nasal bridge, Postaxial polydactyly OMIM:612913
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Aurocephalosyndactyly
4-5 toe syndactyly, Short columella OMIM:109050
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Variegate Porphyria
Tachycardia OMIM:176200
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, W... OMIM:614078
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Clark-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... OMIM:617752
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Bardet-Biedl Syndrome 5
Hypogonadism, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands OMIM:300263
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no... OMIM:251255
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Widely-spaced maxillary central incisors, Partial duplication of the pr... ORPHA:363417
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnorma... ORPHA:1825
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Hypogonadism, Nar... OMIM:615984
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Triangular mouth, Genu valgum, Cutaneous synd... ORPHA:166024
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Nathalie Syndrome
Abnormal EKG OMIM:255990
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,... ORPHA:217385
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Microphthalmia With Limb Anomalies
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... OMIM:206920
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... ORPHA:90650
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly OMIM:615982
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... OMIM:184840
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... ORPHA:2378
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly OMIM:618618
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Broad nasal tip, Bifid ... ORPHA:370010
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodacty... OMIM:614838
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe... OMIM:618506
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Cleft soft palate, Abnormality of th... OMIM:618529
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... ORPHA:1716
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... OMIM:137550
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Acrodysostosis
Micromelia, Depressed nasal ridge, Short metatarsal, Hypoplasia of the ulna, Short metacarpal, An... ORPHA:950
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Non-Distal Duplication 10Q
Depressed nasal bridge, Cryptorchidism, High palate, Everted lower lip vermilion, Short nose, Con... ORPHA:1695
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept... OMIM:302950
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Postaxial hand polydactyly, Abnormal palate morphology, Long philtrum ORPHA:1389
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Talon cusp, Dent... OMIM:613684
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... OMIM:613443
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Depressed ... OMIM:252100
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Short nose, ... ORPHA:1832
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Broad philtru... OMIM:602342
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Anosmia, Cleft palate OMIM:612370
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Prominent nasal ... ORPHA:401935
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Bulbous nose, Clinod... OMIM:613604
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Small hand, Cleft palate OMIM:300261
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... OMIM:101600
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Broad nasal tip, Thick lower lip vermilion, Hip dislocation, Wide nasa... OMIM:619451
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Postaxial hand polydactyly,... OMIM:241800
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Cryptorchidism, W... OMIM:272440
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... ORPHA:93329
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Acrocephalopolydactyly
Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly ORPHA:221054
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, 3-4 finger syndactyly, Wide nasal bridge, 2-3 toe syndactyly OMIM:600906
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion border, High pala... OMIM:617991
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... ORPHA:166272
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Anencephaly 2
Median cleft lip, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge OMIM:619452
Summitt Syndrome
Finger syndactyly, Wide nose, Camptodactyly of finger, Depressed nasal ridge, Genu valgum, Short ... ORPHA:3210
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Elbow dislocation, Cryptorchidism, Short palm,... ORPHA:93328
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Underdeveloped nasal alae, Cleft upper lip, Short metatarsal, Wide nasal b... OMIM:612916
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Aase-Smith Syndrome
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... ORPHA:916
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Sclerosteosis
Finger syndactyly, Abnormality of the nose, 2-3 finger syndactyly, Curved distal phalanges of the... ORPHA:3152
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Broad hallux phalanx, Toe clinodactyly, Anteverted nares, Prominent na... ORPHA:251019
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Cleft palate, Short nose, Convex nasal ridge, Brachyda... ORPHA:2145
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Abn... ORPHA:1295
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Single transverse palmar crease, Broad nasal ti... OMIM:613544
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Summitt Syndrome
Syndactyly OMIM:272350
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Dental cro... OMIM:617201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten... OMIM:615716
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Crypto... OMIM:616331
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth ORPHA:228384
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Camptod... OMIM:618761
Stickler Syndrome, Type Ii
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Long fingers, High, narrow palate, Pier... OMIM:604841
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Brachy... ORPHA:1327
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:1234
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... ORPHA:2251
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Moebius Syndrome
Decreased testicular size, Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed ... OMIM:157900
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... ORPHA:2557
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Long fingers, Ulnar deviation of finger, Downturned corners of... ORPHA:1895
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth ORPHA:93946
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Monosomy 5P
Finger syndactyly, High palate, Small hand, Wide nasal bridge ORPHA:281
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... ORPHA:1135
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... OMIM:300558
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Proximal placement of thumb, Crypto... ORPHA:3121
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Cryptorchidism, Clinodactyly, Wide nasal bridge, ... OMIM:618577
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Short distal pha... OMIM:619356
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Wide nasal bridge, Symphalangism affecting the phalanges of the... ORPHA:710
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Abnormal dental enamel morphology... ORPHA:1515
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Abnorm... ORPHA:2701
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft p... OMIM:147950
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Cryptorchidism, Cleft palate, Orofacial cleft, Coxa vara, ... ORPHA:1988
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Depressed nasal bridge, Abnormality of the humerus, Preaxial hand poly... ORPHA:3098
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Intestin... OMIM:614701
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, D... ORPHA:163966
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... OMIM:614744
Non-Distal Duplication 13Q
Arachnodactyly, Abnormality of the dentition, Cryptorchidism, Postaxial hand polydactyly, Thin ve... ORPHA:1702
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, W... ORPHA:1252
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cryptorchidi... OMIM:600325
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short nose ORPHA:1514
Perlman Syndrome
Anteverted nares, High, narrow palate, Open mouth, Cryptorchidism, Wide nasal bridge, Abnormal up... ORPHA:2849
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose ORPHA:2429
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno... OMIM:258865
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,... ORPHA:1794
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Abnormality of the elbow, Flat acetabular r... ORPHA:163649
Meckel Syndrome, Type 8
Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovarus, Short nose OMIM:613885
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Cornelia De Lange Syndrome 5
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip... OMIM:300882
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Hypoplasia of teeth,... OMIM:249620
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Mosaic Trisomy 14
Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Cryptorchidism, Wide nasal bri... ORPHA:1703
Peho-Like Syndrome
Short nose, Open mouth, Tapered finger OMIM:617507
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly OMIM:616459
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, High palate, Long philtrum ORPHA:2598
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Clinodactyly of the 5th fin... OMIM:601163
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... OMIM:305400
Stickler Syndrome Type 1
Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morpholo... ORPHA:90653
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short palm, Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, C... ORPHA:171839
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger, Abnormal palate morphology, Narrow mouth ORPHA:1495
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Tetrasomy 18P
Large hands, Thin vermilion border, Narrow mouth, Short nose, Long philtrum ORPHA:3307
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, M... ORPHA:1914
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Cleft palate, Genu valgum, Decreased testicular size OMIM:614880
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... OMIM:225060
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Bamforth-Lazarus Syndrome
Cleft palate, Bilateral choanal atresia OMIM:241850
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly OMIM:619981
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Dental crowding, Narrow mouth, Long philtrum, Bilateral talipes equinovarus, Tali... OMIM:615539
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
C Syndrome
Short metacarpal, Toe syndactyly, Anteverted nares, Accessory oral frenulum, Micromelia, Cryptorc... OMIM:211750
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Primary am... OMIM:244200
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t... ORPHA:485405
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... ORPHA:65759
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short metatarsal, Adv... OMIM:614613
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short palm, Finger syndactyly, Anteverted nares, Single transverse pal... ORPHA:915
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormal femur morph... ORPHA:3429
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic b... OMIM:614524
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... OMIM:186500
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal phalanges... OMIM:300863
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate OMIM:600252
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Omodysplasia 2
Short humerus, Dyspareunia, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft l... OMIM:164745
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Proximal/middle symphalangism... OMIM:184460
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's... OMIM:618316
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... OMIM:601349
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Broad nasal tip OMIM:613670
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Pde4D Haploinsufficiency Syndrome
Prominent nose, Short metatarsal, Short philtrum, Bilateral coxa valga, Short phalanx of finger, ... ORPHA:439822
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Marshall Syndrome
Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper lip vermilion, Bifid... OMIM:154780
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... OMIM:616898
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... ORPHA:210548
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Macroorchidism, Short nose, Open mouth OMIM:300143
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth, C... ORPHA:1786
Kbg Syndrome
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped n... ORPHA:2332
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Hypomelanosis Of Ito
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... OMIM:300337
Rapadilino Syndrome
Slender nose, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft palate,... OMIM:266280
Filippi Syndrome
Enlarged epiphyses, Wide nose, Finger syndactyly, Prominent nasal bridge, Underdeveloped nasal al... ORPHA:3255
Pterygium Colli, Isolated
Short nose OMIM:177990
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Down Syndrome
Brachydactyly, Depressed nasal bridge, Aganglionic megacolon, Sandal gap, Protruding tongue, Abno... ORPHA:870
Blepharocheilodontic Syndrome 1
Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, ... OMIM:119580
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Anal atres... OMIM:616854
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, ... OMIM:615583
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crowding, Short toe, Pierre-Robin ... OMIM:617877
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short ... OMIM:239800
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Depressed nasal bridge, Sandal gap, Elbow dislocation, Tombstone-shape... OMIM:108721
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Depressed nasal bridge, Single transverse palmar crea... OMIM:617061
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion OMIM:613576
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Char Syndrome
Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, P... ORPHA:46627
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar cr... OMIM:614105
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Abnormality of the hand, Cryptorchidism, Bulbous nose, Clinod... ORPHA:369891
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Depressed nasal bridge, Narrow mouth, Camptodactyly, Intestinal ... OMIM:616006
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology of ulna, Abnormality... ORPHA:1307
Burn-Mckeown Syndrome
Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/ste... OMIM:608572
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Cryptorchid... ORPHA:178303
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... ORPHA:2010
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Split-Hand/Foot Malformation 3
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly OMIM:246560
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Tri... ORPHA:1912
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse... OMIM:613320
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... OMIM:217085
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Convex nasal ridge, Tibial bowing, High palate, Short philtrum, Microdontia, Cli... ORPHA:251028
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... OMIM:164200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Esophageal a... OMIM:619859
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Cleft palate, Femoral... ORPHA:83
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierr... ORPHA:1358
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Cleft p... ORPHA:2994
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duodenal ... ORPHA:2547
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Trisomy 12P
Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large hands, Everted lower lip verm... ORPHA:1699
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Pyloric stenosis, Cryptorchidism, Small hand... ORPHA:96184
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... OMIM:300963
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology ORPHA:166100
Atelosteogenesis, Type Ii
Depressed nasal bridge, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greate... OMIM:256050
Crane-Heise Syndrome
Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly... ORPHA:1512
Schilbach-Rott Syndrome
Prominent nose, Long nose, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger ... OMIM:164220
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Aplasia of the epiglottis, High palate, Clinodactyly... OMIM:268305
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Cleft palate, Underdeveloped nasal alae OMIM:611867
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... OMIM:613573
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases OMIM:611936
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Downturned c... ORPHA:217017
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal... ORPHA:59315
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Short foot, Talipes equinovarus, Long philtrum, Short nose ORPHA:93298
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... OMIM:244600
Bamforth-Lazarus Syndrome
Choanal atresia, Cleft palate ORPHA:1226
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Long nose... ORPHA:261211
Achondrogenesis Type 1A
Anteverted nares, Micromelia, Short foot, Short palm, Short nose, Long philtrum ORPHA:93299
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Diprosopus
Non-midline cleft lip, Cleft palate, Abnormality of the nose ORPHA:1681
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Postaxial ... OMIM:615986
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Arthrogryposis, Distal, Type 2A
Dental crowding, High palate, Wrist flexion contracture, Ulnar deviation of the hand or of finger... OMIM:193700
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge,... OMIM:228520
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract... ORPHA:391372
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Broa... OMIM:239300
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft... ORPHA:1784
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Anteverted nares, Pierre-Robin sequence, Small hand, Wide nasal bri... OMIM:619980
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Downturned corners of mouth, Thin vermilion border, Short philtrum, Hypogonadism, Sh... ORPHA:2983
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Thin vermilion border, C... OMIM:610015
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Cryptorchidism, Wide mouth, Short nose, Smooth philtrum OMIM:615419
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... OMIM:615777
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos... OMIM:616430
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... OMIM:618430
Robinow Syndrome, Autosomal Dominant 3
Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Depress... OMIM:616894
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... ORPHA:1106
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... ORPHA:1104
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Narrow mout... OMIM:615065
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Cryptorchidism, Deep philtrum, Large hand... ORPHA:3447
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... OMIM:609638
Osteoglophonic Dysplasia
Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Pseudoarthr... OMIM:166250
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nares, Abnormal de... ORPHA:2710
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, ... ORPHA:435638
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5... ORPHA:391408
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... ORPHA:2980
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Ring Chromosome 21 Syndrome
Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Clinodactyly, Amenorrhea ORPHA:1445
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Cryptorchidism... OMIM:217980
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O... OMIM:616638
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Hartsfield Syndrome
Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th... ORPHA:2117
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Tented upper ... OMIM:616723
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Cryptorchidism, Short nose OMIM:614732
Opsismodysplasia
Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epi... ORPHA:2746
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... OMIM:614749
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... ORPHA:1507
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Achondrogenesis
Short nose, Anteverted nares, Micromelia, Long philtrum ORPHA:932
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Wide nasal br... OMIM:619383
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Anteverted nares, Rocker bottom foot, Proximal pla... OMIM:619762
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Long nose, ... OMIM:617602
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Und... OMIM:272950
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Posta... ORPHA:404440
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... OMIM:184250
Waardenburg Syndrome, Type 3
Scapular winging, Aganglionic megacolon, Prominent nasal bridge, Camptodactyly of finger, Wide na... OMIM:148820
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho... OMIM:618828
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Cryptorchidism, Duplication of phala... OMIM:243310
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Large tarsal bones, Bulbous nose,... OMIM:215150
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... OMIM:227330
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, ... OMIM:620250
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Esophageal atresia, Devi... ORPHA:1305
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, High palate, Short nose OMIM:218000
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... ORPHA:261236
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B... ORPHA:1642
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Underdeveloped nasal alae OMIM:601355
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Hypoplasia o... OMIM:212780
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,... OMIM:616420
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... OMIM:608156
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Seckel Syndrome 5
Prominent nasal bridge, Selective tooth agenesis, Cryptorchidism, Cleft palate, Oligodontia, High... OMIM:613823
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... OMIM:268310
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl... OMIM:119800
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Overlapping toe, Cutaneous syndactyly, High palate, Tal... OMIM:617822
Acrofrontofacionasal Dysostosis 2
Syndactyly, Wide nose, Broad hallux, Hand polydactyly, High palate, Broad thumb OMIM:239710
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Cryptorchidism, Wide... OMIM:613026
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Open bite, D... ORPHA:1974
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Trisomy 8Q
Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Wide nasal bridge, Cleft palate, ... ORPHA:1752
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Preaxial hand polydactyly, Deep p... OMIM:610536
Sweeney-Cox Syndrome
2-4 finger syndactyly, Short distal phalanx of finger, 2-5 finger cutaneous syndactyly, Choanal a... OMIM:617746
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Polydactyly, Smooth philtrum OMIM:602501
Distal Duplication 5Q
Hypoplasia of the ulna, Brachydactyly, Prominent nasal bridge, Absent thumb, Carious teeth, Crypt... ORPHA:96097
Smith-Magenis Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Cleft upper... ORPHA:819
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate OMIM:614120
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downtur... OMIM:618571
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov... OMIM:616738
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous nose, 2-3 toe synd... OMIM:236500
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... ORPHA:90652
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip ORPHA:2476
Atelosteogenesis, Type I
Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Depressed nasal bridge, Club-sh... OMIM:108720
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Toluene Embryopathy
Tapered finger, Cryptorchidism, Thin vermilion border, Short nose, Smooth philtrum ORPHA:1920
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ... ORPHA:313781
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Abnormality of the dentition... OMIM:271510
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr... OMIM:607597
Rapp-Hodgkin Syndrome
Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Conical tooth, Cleft upper lip, 2-... OMIM:129400
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate OMIM:615042
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Sandal gap, Long philtrum OMIM:300887
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ... ORPHA:2754
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... ORPHA:783
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Cryptorchidism, Accessory carpal bones,... ORPHA:503
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Thick upper lip... OMIM:612651
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Fractured radius, Decreased fibular diameter, Flared metaphysis, W... OMIM:616897
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Cryptorchi... ORPHA:1300
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... ORPHA:561
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Dep... ORPHA:2753
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Abnormal palate morphology ORPHA:251046
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... OMIM:619148
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic... ORPHA:1788
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Fetal Trimethadione Syndrome
High palate, Short nose, Depressed nasal bridge, Bilateral single transverse palmar creases ORPHA:1913
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Crypto... ORPHA:2083
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... OMIM:600920
Malan Syndrome
Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance... OMIM:614753
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Dysmenorrhea, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty... ORPHA:397590
Distal Deletion 10Q
Single transverse palmar crease, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, ... ORPHA:96148
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Talipes equinovarus, Ev... OMIM:617865
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Downturned corners of mouth, Slender long bone, Thick vermilion border, Cubitus... ORPHA:1185
Pallister-Hall Syndrome
Anteriorly placed anus, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Depre... OMIM:146510
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... OMIM:611561
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentition, Cryptor... OMIM:618505
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Non-midline cleft lip, Cleft palate, Microdontia, Sho... ORPHA:1915
Microcephaly-Capillary Malformation Syndrome
Wide nose, Cleft palate, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly OMIM:614261
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplas... OMIM:617895
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bri... ORPHA:1942
Tularemia
Tachycardia ORPHA:3392
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, 2-3 finger syndactyly, Hamartoma of tongue ORPHA:1338
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse... ORPHA:476126
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Anteverted nares OMIM:263630
Glass Syndrome
Smooth philtrum, Anteverted nares, Prominent nasal bridge, Anterior tibial bowing, Broad nasal ti... OMIM:612313
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Tented phil... ORPHA:363659
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Peho Syndrome
Short nose, Tented upper lip vermilion, Open mouth, Tapered finger OMIM:260565
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... ORPHA:1692
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Cleft upper lip,... OMIM:263750
Hamamy Syndrome
Long toe, Thin upper lip vermilion, Syndactyly, Anteverted nares, Down-sloping shoulders, Tapered... OMIM:611174
Prader-Willi Syndrome Due To Translocation
Prominent nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Bifid u... ORPHA:177907
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal alae, Broad nasal ti... ORPHA:250999
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short... OMIM:601559
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris OMIM:122880
2Q31.1 Microdeletion Syndrome
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal nasal mor... ORPHA:3224
Acrocraniofacial Dysostosis
Anteverted nares, Prominent nasal bridge, Choanal atresia, Tapered finger, Coxa valga, Cleft pala... ORPHA:949
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasa... ORPHA:7
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Anteverted nares, Bo... OMIM:272460
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Dend Syndrome
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... ORPHA:79134
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Crypt... ORPHA:2008
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Single transverse palmar crease, Bilateral cr... ORPHA:2409
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Metatarsus adductus, Short thumb, Hig... ORPHA:436003
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Cryptorchidis... OMIM:123450
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... ORPHA:1427
Tarp Syndrome
Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hyp... OMIM:311900
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Rocker bottom foot, Tapered fing... OMIM:601353
Geleophysic Dysplasia 1
Anteverted nares, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital femoral epiphysi... OMIM:231050
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose... OMIM:615803
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... ORPHA:246
Acromelic Frontonasal Dysostosis
Syndactyly, Broad nasal tip, Bifid nasal tip, Cleft upper lip, Cryptorchidism, Preaxial polydacty... OMIM:603671
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 1
Thin upper lip vermilion, Sandal gap, Prominent nose, Bulbous nose, Depressed nasal ridge, Short ... OMIM:156200
19P13.13 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... ORPHA:357001
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, High, narrow palate, Bulbous nose, Supernumerary tooth, Small hand, Oligodonti... ORPHA:1787
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Wide nasal bridge, Cleft palate ORPHA:66629
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal nasal morphology, Non-midline cleft lip, Hypoplasia of ... ORPHA:245
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Prominent nose, Anteriorly placed anus, Promine... OMIM:305450
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Underdeveloped na... ORPHA:284160
Bainbridge-Ropers Syndrome
Dental crowding, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal ste... OMIM:615485
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Hip dysplasia, Hypodontia, Finger joint hypermobility, Metac... ORPHA:544503
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Br... ORPHA:1001
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Everted lower lip... ORPHA:261144
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Intestinal malrotation, Depressed nasal bridge, Anteverted na... OMIM:605039
Weiss-Kruszka Syndrome
Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Exaggerated cupid... OMIM:618619
Autosomal Dominant Robinow Syndrome
Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou... ORPHA:3107
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Coxa valga, Deep phi... OMIM:619833
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Cryptorchidism,... OMIM:614230
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Microdontia, Bifid uvula, Depressed nasa... OMIM:613458
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614207
Ogden Syndrome
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... OMIM:300855
Tetrasomy 5P
Anteverted nares, Overlapping toe, Short hallux, Long fingers, Wide nasal bridge, High palate, Ta... ORPHA:3309
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Orofacial ... ORPHA:65286
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth OMIM:619092
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Premature loss of teeth, Hypoplasia of teeth, High palate, O... OMIM:608612
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Depressed nasal bridge ORPHA:99688
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:560
Perrault Syndrome 4
Premature ovarian insufficiency, Secondary amenorrhea, Cleft palate, Primary amenorrhea, Hypoplas... OMIM:615300
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Anteverted nares, Premature ovarian insufficiency, Tape... ORPHA:96201
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal ste... OMIM:101200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, Polydactyly,... ORPHA:314655
Normosmic Congenital Hypogonadotropic Hypogonadism
Depressed nasal bridge, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the de... ORPHA:432
Johnson Neuroectodermal Syndrome
Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Cleft palate, H... ORPHA:2316
Laurence-Moon Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Hand polydactyly, ... ORPHA:2377
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Short lingual frenulum, Broad nasal tip, Asymmetry of the nares, Unilatera... ORPHA:1521
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... ORPHA:894
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... OMIM:612394
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Absent phalangeal crease, Tarsal synostosis, Cleft palate OMIM:618469
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... ORPHA:2750
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... ORPHA:1973
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... OMIM:170390
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hip dislocation, Wide mouth, Long philtrum, Short nose OMIM:608776
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Underdeveloped nasal alae, Cryptor... ORPHA:217346
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Deep philtrum, Abnormal palate morphology ORPHA:2475
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose, Cleft palate, Accessory oral frenulum ORPHA:79113
Sclerosteosis 1
Syndactyly, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, 2-3 finger syndactyly... OMIM:269500
Trisomy 20P
Finger syndactyly, Macroorchidism, Anteverted nares, Camptodactyly of finger, Abnormality of the ... ORPHA:261318
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Single transverse palmar c... OMIM:247200
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Single transverse palmar crease, Slender finger, Small ... ORPHA:1449
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Abnormality of th... ORPHA:363528
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Squa... OMIM:258480
Robinow Syndrome
Dental crowding, Orofacial cleft, Syndactyly, Depressed nasal bridge, Anteverted nares, Persisten... ORPHA:97360
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Long nose, Narrow greater sciatic notch, Short phalanx of finger, Broad m... ORPHA:508533
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly, Short nose OMIM:618087
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Crypto... ORPHA:251071
Nephrotic Syndrome, Type 11
Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino... OMIM:616730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Clinodactyly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Abno... ORPHA:95699
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ... OMIM:305620
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ... OMIM:271665
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Depressed nasal bridge, Underdeveloped nasal alae, Tapered finger, De... OMIM:616007
Raine Syndrome
Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Micromelia, Protr... OMIM:259775
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ... ORPHA:2031
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str... ORPHA:93357
Intellectual Developmental Disorder, X-Linked 98
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... OMIM:300912
Frontonasal Dysplasia 3
Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Cohen Syndrome
Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnorma... ORPHA:193
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae, Cryptorchidism, ... OMIM:616835
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... OMIM:211350
Au-Kline Syndrome
Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal... OMIM:616580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose OMIM:242860
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Short palm, Finger syndactyly, Toe clinodactyly, Anteverted nares, Sandal ga... ORPHA:254346
Aase-Smith Syndrome I
Slender finger, Open mouth, Talipes equinovarus, Cleft palate OMIM:147800
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Abnormality of the dent... ORPHA:90154
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... ORPHA:50945
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly ORPHA:1129
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Depressed nasal... ORPHA:794
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... OMIM:174300
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... ORPHA:284169
Microlissencephaly-Micromelia Syndrome
Bilateral single transverse palmar creases, Micromelia, Long philtrum, Short nose, Adducted thumb ORPHA:50810
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Exaggerated cupid's bow, Prominent nasal bridge, Arachnodactyly, Tapered finge... ORPHA:2215
Developmental Delay With Or Without Dysmorphic Facies And Autism
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... OMIM:618454
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... ORPHA:3103
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Clinodactyly of the 5th finger, Bifid u... ORPHA:264450
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Cleft palate, Mic... OMIM:603736
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Cryptorchidism,... ORPHA:73246
Illum Syndrome
Bradycardia OMIM:208155
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D... OMIM:615398
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Protruding tongue, Diaste... OMIM:301040
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Cryptorchidism, Cleft pala... ORPHA:1812
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Narrow m... ORPHA:1323
Kbg Syndrome
Short palm, Syndactyly, Tented upper lip vermilion, Anteverted nares, Prominent nasal bridge, Mac... OMIM:148050
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Dental... ORPHA:2920
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Slender... OMIM:618590
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly OMIM:616589
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal... ORPHA:3078
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Menke-Hennekam Syndrome 1
Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Short philtrum, ... OMIM:618332
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar... OMIM:301044
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly ORPHA:2890
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Thick ... OMIM:303600
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft... ORPHA:251038
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum OMIM:601853
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... OMIM:610828
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... ORPHA:69085
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Anteverted nares, Single transverse palmar crease, Overla... ORPHA:464738
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Silver-Russell Syndrome 1
Syndactyly, Short distal phalanx of the 5th finger, Downturned corners of mouth, Clinodactyly of ... OMIM:180860
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate OMIM:607361
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... OMIM:614921
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Wide nasal bridge, High palate, C... OMIM:104350
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Narr... OMIM:601812
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Wide mouth, Hand polydactyly, Foot pol... ORPHA:60040
Peho Syndrome
Anteverted nares, Tapered finger, Open mouth, Gingival overgrowth, Abnormal upper lip morphology,... ORPHA:2836
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Short hallux, Coxa valga, Wide nasal b... ORPHA:1517
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forear... OMIM:251230
Lathosterolosis
Toe syndactyly, Anteverted nares, Bulbous nose, Postaxial hand polydactyly, Gingival overgrowth, ... ORPHA:46059
Femoral-Facial Syndrome
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Toe syndactyly, Short ... OMIM:134780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Open mouth, Cleft palate, Hydrocele test... OMIM:614080
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Thin upper lip vermilion, Finger syndactyly, Dental crowding, Single transverse palmar crease, Ta... ORPHA:435938
Spondylodysplastic Ehlers-Danlos Syndrome
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Depressed nasa... ORPHA:536471
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Non-midline cleft lip, Wide nasal... ORPHA:1908
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... ORPHA:87
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Depressed nasal ridge, Cleft palate, High ... OMIM:616038
Harel-Yoon Syndrome
Short nose, Hip dysplasia OMIM:617183
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Thick nasal alae ORPHA:163961
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Tented upper lip vermilion, Single transverse palmar cre... ORPHA:521426
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Malabsorption... ORPHA:2315
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Tracheoesophageal fistu... ORPHA:2437
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bridge, Orofacia... ORPHA:1519
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Dental crowding, Choanal at... ORPHA:93932
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, High palate, Narrow mouth, Short nos... OMIM:219200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi... ORPHA:2719
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Short thumb, Super... OMIM:268400
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Cleft palate, Anal atresia OMIM:220210
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Hydrocele testis, High palate, Long philtrum, Short nose OMIM:605309
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Prominent nose, Abnormality of the elbow, H... ORPHA:1005
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Prominent nasal bridge, Abnormalit... ORPHA:978
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Narrow pelvis bone, Hammertoe, Talip... OMIM:608022
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd... ORPHA:2473
Joubert Syndrome 33
Syndactyly OMIM:617767
Musculocontractural Ehlers-Danlos Syndrome
Thin upper lip vermilion, Decreased palmar creases, Tapered finger, Cleft lip, Cryptorchidism, Ma... ORPHA:2953
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge, Intestinal malrotation ORPHA:2143
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb,... OMIM:615789
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, S... OMIM:244450
C Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micromelia, Bi... ORPHA:1308
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Alveolar ridge overgrowth, Cleft palate, ... OMIM:602398
Tarp Syndrome
Finger syndactyly, Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxi... ORPHA:2886
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Short nose, Clinodactyly of the 4th toe,... OMIM:614225
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... ORPHA:158687
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Cryptorchid... OMIM:619005
Trisomy 10P
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the hand, Abnormality... ORPHA:171929
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Short nose, Decreased... OMIM:614222
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, High... OMIM:301091
Ayme-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Abnormality of the dentition, N... OMIM:601088
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Coffin-Siris Syndrome 4
Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ... OMIM:614609
Bardet-Biedl Syndrome
Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia... ORPHA:110
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion... OMIM:614800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Tapered finger, Wide nasal bridge, Hydrocele testis, Short columella, Shor... OMIM:613603
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, High palate, Depressed nasal bridge OMIM:614520
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Overlapping toe, Broad nasal tip, Tapered finge... OMIM:309590
Omodysplasia 1
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Cryptorchidism, Wi... OMIM:258315
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Desmosterolosis
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a... ORPHA:35107
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Jacobsen Syndrome
Long hallux, Broad columella, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, A... ORPHA:2308
Trisomy 18
Choanal atresia, Camptodactyly of finger, Esophageal atresia, Non-midline cleft lip, Postaxial ha... ORPHA:3380
Triploidy
Finger syndactyly, Intestinal malrotation, Cryptorchidism, Non-midline cleft lip, Cleft palate, W... ORPHA:3376
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Choanal atresia, Abnormality of the dentitio... OMIM:151050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Prader-Willi Syndrome
Narrow nasal bridge, Thin upper lip vermilion, Syndactyly, Hypogonadotropic hypogonadism, Carious... OMIM:176270
Geleophysic Dysplasia 2
Thin upper lip vermilion, Cone-shaped epiphysis, Short foot, Short palm, Short nose, Smooth philt... OMIM:614185
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt... OMIM:615873
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Hypogonadism OMIM:615849
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short meta... OMIM:263650
Prolidase Deficiency
High palate, Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal dental enamel morphology, Choanal atresia, Aplastic clavicle, High, n... ORPHA:2658
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe, Shoulder flexion cont... OMIM:620369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Depressed nasal bridge, Anteverte... ORPHA:536467
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... OMIM:602535
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, High ... ORPHA:139471
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Prominent f... ORPHA:363611
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Hip dysplasia ORPHA:496790
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ... ORPHA:79345
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Bifid nasal tip, Abnormali... OMIM:304110
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchid... ORPHA:2311
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth OMIM:613735
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose OMIM:613038
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Prominent palatine ridges, Anteverted nares, Proportiona... ORPHA:280633
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Lathosterolosis
Toe syndactyly, Anteverted nares, Postaxial hand polydactyly, Wide nasal bridge, Gingival overgro... OMIM:607330
Micro Syndrome
Anteverted nares, Cryptorchidism, Wide nasal bridge, High palate, Short philtrum, Short nose ORPHA:2510
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
Constricting Bands, Congenital
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus OMIM:217100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Short nose OMIM:618005
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares, Decreased fertility, Hypoplasia of teeth OMIM:234050
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Proximal... ORPHA:261112
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Abnormality of... OMIM:115150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Volvulus, Short nose, Depressed nasal bridge, Natal tooth OMIM:617802
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Wide... OMIM:613457
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Bulbous nose, Narrow mouth, ... OMIM:614114
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, High, narrow palate, Cryptorchidis... ORPHA:96182
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Jaberi-Elahi Syndrome
Depressed nasal bridge, Triangular mouth, Talipes equinovarus, Hand clenching, Short nose OMIM:617988
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... ORPHA:457279
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Acetabular dysplasia, Cry... OMIM:265000
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Anteverted nares, Toe syndactyly, Camptodactyly of... ORPHA:373
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Ring Chromosome 12 Syndrome
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Cryptorchidism, Symphalangism of... ORPHA:1439
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand, Unilateral cryptorchidism OMIM:616489
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br... ORPHA:1465
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Cleft uppe... OMIM:213980
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ... OMIM:119600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, H... ORPHA:2250
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Triangular mouth, Cleft pala... OMIM:257300
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabia... ORPHA:357074
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchid... ORPHA:1272
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality of the... ORPHA:319182
Graft Versus Host Disease
Tachycardia ORPHA:39812
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Short nose OMIM:266810
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, High, narrow palate... ORPHA:3472
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate, Long philtrum, Short nos... OMIM:300749
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor... OMIM:613406
Mirizzi Syndrome
Tachycardia ORPHA:521219
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced teeth, High p... ORPHA:199
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
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Cryptorchidism, Downturned corners of mouth, Macroglossia, E... ORPHA:96147
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Narrow mouth, 2-3 toe cutaneous ... OMIM:620029
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Palmoplantar keratoderma, Recur... OMIM:604173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Cerebrofacioarticular Syndrome
Syndactyly, Irregular dentition, Anal stenosis, Bilateral choanal atresia/stenosis, Narrow mouth,... ORPHA:314679
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... ORPHA:261494
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Chops Syndrome
Anteverted nares, High, narrow palate, Cryptorchidism, Downturned corners of mouth, Long philtrum... OMIM:616368
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Ulnar deviation of the hand, Depressed nasal bridge, R... ORPHA:79328
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Protruding tongue, Thick vermilion border, Narrow mouth, Overlapping fingers, Short no... OMIM:608779
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fist... OMIM:301030
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Choanal atresia, Proximal pla... ORPHA:1896
Monosomy 22
Finger syndactyly, Wide nose, Single transverse palmar crease, Clubbing, Prominent nasolabial fol... ORPHA:96123
Arterial Tortuosity Syndrome
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit morp... ORPHA:2363
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Cryptorchidism, Wide nasal bridge, Submucous cleft soft pala... ORPHA:2282
Toriello-Carey Syndrome
Aganglionic megacolon, Cryptorchidism, Clinodactyly, Cleft palate, Anteriorly placed anus, High p... ORPHA:3338
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad... OMIM:617157
Stickler Syndrome
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, Abnormal dental en... ORPHA:828
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Elsahy-Waters Syndrome
Bilateral cryptorchidism, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid... OMIM:211380
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Cryptorchidism, Submucous ... ORPHA:1340
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... OMIM:601707
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Prominent nasal bridge, Single transverse palmar crease, B... OMIM:223370
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... ORPHA:79500
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... OMIM:619522
Focal Dermal Hypoplasia
Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal palm... ORPHA:2092
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Prominent nose, Bilateral cryptorchidism, High,... OMIM:180849
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Pallister-Hall Syndrome
Depressed nasal ridge, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Anteverted nares, Acces... ORPHA:672
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Cleft lip, Cryptorchidism, Anosmia, Dental malocc... OMIM:603457
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l... OMIM:269150
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Choanal atresia, Bowing of the legs, Aplasia/Hypoplasia of ... OMIM:617063
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Short sternum, Short nose OMIM:222448
Hartsfield Syndrome
Syndactyly, Wide nose, Median cleft lip, Cleft upper lip, Cryptorchidism, Cleft palate, Ectrodactyly OMIM:615465
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... ORPHA:77301
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, Anteverted nares, Abn... ORPHA:818
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Depressed nasal bridg... OMIM:312870
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... ORPHA:109
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned cor... OMIM:619321
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Cryptorchidism, Downturned corners ... ORPHA:264200
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... OMIM:119500
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Bloom Syndrome
Syndactyly, Prominent nose, Decreased fertility in females, Cryptorchidism, Recurrent upper respi... OMIM:210900
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Wide mouth, High palate, Short nose, Convex nasal ridge OMIM:300661
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Everted lower lip vermilio... OMIM:608013
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent hand, Abnormal... ORPHA:974
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, P... ORPHA:522077
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... ORPHA:1401
Deeah Syndrome
Overlapping fingers, Malabsorption, Cryptorchidism, Narrow palate, High palate, Short philtrum, N... OMIM:619004
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... ORPHA:2729
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Bowing of the long bones, Syndactyly, Intestinal malrotati... OMIM:249000
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasal bridge, Cl... OMIM:613610
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormality of the tongue, Cleft pala... ORPHA:2990
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Brachydactyly ORPHA:3339
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Pyloric stenosis, Cryptorchidism, Clinodactyly of the 5... OMIM:147791
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Anteriorly pla... ORPHA:1708
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Cryptorchidism, Tracheoesoph... ORPHA:887
Fanconi Anemia
Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing... ORPHA:84
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal a... ORPHA:268261
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small intestine, Sho... OMIM:200995
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Triangular mouth, Hypogonadism, Short nose OMIM:601675
Zttk Syndrome
Depressed nasal bridge, Abnormality of the dentition, Submucous cleft hard palate, Small hand, Wi... OMIM:617140
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Depressed nasal ridge, Wide n... ORPHA:2211
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Schinzel-Giedion Syndrome
Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis, Short philtr... ORPHA:798
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Anteverted nares, Choanal atresia, Cleft lip, Bulbous nose, Cryptorchidism, Furrowed ... OMIM:616975
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose OMIM:615851
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Br... OMIM:619727
Peters Plus Syndrome
Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Intestinal fistula, Depressed na... ORPHA:709
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cr... OMIM:601776
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly, Postaxial hand pol... OMIM:619879
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Cleft upper lip, Sw... OMIM:256520
Degcags Syndrome
Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus hernia, Short thumb, Cryptorchi... OMIM:619488
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Ab... ORPHA:2136
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip vermilion, Eruptio... OMIM:230740
Focal Dermal Hypoplasia
Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly pla... OMIM:305600
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... OMIM:236700
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Adams-Oliver Syndrome 5
Syndactyly, Esophageal varix, Brachydactyly OMIM:616028
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Ileal atresia, Cryptorchidi... OMIM:618820
Cadds
Short nose ORPHA:369942
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Protruding tongue, High, narrow pal... OMIM:612289
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... OMIM:617666
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, 2-3 toe syndactyly,... OMIM:107480
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Sandal gap, Broad nasal tip, Long fingers, Wide nasal bridge, Cutaneous... OMIM:620330
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Small hand, Fibular hypoplasia, Hypoplasia of proxima... ORPHA:444077
Fraser Syndrome
Finger syndactyly, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Toe sy... ORPHA:2052
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2908
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Clinodactyly, Short nose OMIM:618460
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Broad nasal tip ORPHA:293948
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Cryptorchidism, High palate, Short nose OMIM:609942
Fraser Syndrome 3
Short toe, Wide nose, Convex nasal ridge, Cutaneous syndactyly OMIM:617667
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly ORPHA:2169
Coffin-Siris Syndrome 12
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Celi... OMIM:619325
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th... OMIM:268300
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Wide nasal bridge, Cl... ORPHA:1587
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, High palate, Polydactyly, Overhanging nasal tip OMIM:619869
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Aspartylglucosaminuria
Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, Malabsorption, Wide nas... ORPHA:93
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... ORPHA:2911
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... OMIM:261540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Syndactyly, Broad hallux, Cryptorchidism, Supernumerary tooth, Talo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Syndactyly, Broad hallux, Cryptorchidism, Supernumerary tooth, Talo... ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, High, narrow palate,... OMIM:619475
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, 3-4 finger cutaneous syndactyly, 2-3... OMIM:181270
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Thin upper lip vermilion, Syndactyly, Scapular winging, Single transverse palm... OMIM:150230
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... OMIM:607932
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern... OMIM:619503
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Thick vermilion border, Long philtrum OMIM:252160
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Esophag... OMIM:192350
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, B... ORPHA:2152
Peroxisome Biogenesis Disorder 4B
Short nose, Single transverse palmar crease OMIM:614863
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... ORPHA:261537
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Orofacial cleft, Abnormality of the upper limb, Short lower limbs ORPHA:1556
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Anterior... OMIM:601803
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Cryptorchidism, Bulbous nose, 2-3 toe syndactyly, Talipes equinovarus, Clinoda... OMIM:620025
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Arachnodactyly, Absent thumb, Wide nasal bridge, Cleft palate, Downturned... ORPHA:500150
Williams Syndrome
Rectal prolapse, Microdontia, Clinodactyly of the 5th finger, Abnormal dental morphology, Abnorma... ORPHA:904
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Microphthalmia, Syndromic 1
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... ORPHA:261552
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration... OMIM:610168
Penile Agenesis
Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Bilateral tali... ORPHA:49
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Williams-Beuren Syndrome
Hallux valgus, Colonic diverticula, Depressed nasal bridge, Anteverted nares, Down-sloping should... OMIM:194050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst... ORPHA:365
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macroorchidism, Depressed nasal bridge, Anteverted nares, Abnor... ORPHA:744
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Dental malocclus... OMIM:601552
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Narrow mouth OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Broad first metatars... 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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