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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Convex nasal ridge, Large beaked nose, Dental malocclusion, Wide nose, Prominent nose 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
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Large hands, Long toe, Cleft lip, Cleft palate OMIM:300263
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Syngnathia
Cleft palate OMIM:119550
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:2935
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Broad nasal tip, Elbow dislocation, Rhizomelia, Cleft palate, Flattened epiphysis, E... ORPHA:166016
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Abnormality of the dentition, Sandal gap, High palate... ORPHA:217340
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Short distal phalanx o... OMIM:311895
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose OMIM:218010
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Hand oligodactyl... ORPHA:3104
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short nose, Cleft palate ORPHA:2015
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip, Laryngomalacia ORPHA:2373
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... OMIM:155050
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morph... ORPHA:294975
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... ORPHA:1406
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose, Deviation of finger ORPHA:1450
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Short nose, Bulbous nose, Abnormality of epiphysi... ORPHA:969
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly, Cleft palate OMIM:183700
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Short nose, Downturned corners of mouth, Depr... ORPHA:1906
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Prominent n... ORPHA:1200
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Short nose, High palate, Everted lower lip vermilion... ORPHA:261120
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Variegate Porphyria
Tachycardia OMIM:176200
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Orofaciodigital Syndrome Viii
Broad nasal tip, Polydactyly, Short tibia, Cleft palate, Hypoplasia of the epiglottis, Syndactyly... OMIM:300484
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short nose, Narrow mouth, Short foot, Wide nasal bridge, Short metacarpal, Cleft pal... OMIM:614078
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Shoulder muscle hyp... ORPHA:3181
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Clinodactyly... OMIM:617061
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Jawad Syndrome
4-5 toe syndactyly, Prominent nose, Short middle phalanx of the 5th finger, Single interphalangea... OMIM:251255
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Thin vermilion border, Short nose, Narrow mouth, Abnormality of the metacarpal bon... ORPHA:2370
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Bowing of th... OMIM:249710
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Maxillonasal Dysplasia
Open bite, Short nose, Short columella, Abnormality of the nares, Short distal phalanx of finger,... ORPHA:1248
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Abnormality of the pharynx ORPHA:718
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand, Selective tooth agenesis, M... OMIM:225280
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly, Bulbous nose, Wide nasal bridge OMIM:612913
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, ... ORPHA:3268
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, Sandal gap, Clinodactyly, Hig... OMIM:617752
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Gordon Syndrome
Camptodactyly of finger, Finger syndactyly, Cleft palate, High palate, Clinodactyly of the 5th fi... ORPHA:376
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Broad thumb, Narrow palate, Intestinal malrotation, Syndactyly... OMIM:613684
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Bardet-Biedl Syndrome 5
Polydactyly, Hypogonadism, Syndactyly, Brachydactyly OMIM:615983
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Cleft palate, Cleft upper lip, Depressed nas... OMIM:613885
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Congenital hip dislocation, Recurrent upper respiratory tract infections, Broad palm,... OMIM:300209
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate OMIM:248110
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Single transv... OMIM:601224
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Short nose, Fused fourth and fifth metacarpals, High ... OMIM:206920
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Ulnar deviation of the wrist, Ulnar deviation ... ORPHA:1529
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Chromosome 16P13.3 Duplication Syndrome
Short nose, Short phalanx of finger, Bulbous nose, Camptodactyly, Short toe, Hip dislocation, Tap... OMIM:613458
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Short nose, Narrow mouth, High palate, Clinodactyly of the 5th finger... ORPHA:217385
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Long philtrum, Abnormal thumb morphology, Finger syndactyly, Deep philtrum, Wide mouth, Wide nasa... ORPHA:1825
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Rhizomelia, Short humerus, Short metacarpal, Cox... ORPHA:2831
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Short nose, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93258
Aurocephalosyndactyly
Short columella, 4-5 toe syndactyly OMIM:109050
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Short nose, Dental crowding, Mesomelia, Abnormality of the dentition,... OMIM:616331
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Premature loss of primary teeth, Syndactyly, Microdontia, Prominent nasal bridge, Wi... OMIM:617364
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Underdeveloped nasal alae, Fibular duplication, Short foot, Synda... OMIM:135750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Intellectual Developmental Disorder, X-Linked 30
Short nose, Open mouth, Drooling, Thin upper lip vermilion, High palate, Anteverted nares OMIM:300558
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Re... OMIM:618618
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad thumb, Short nose, Camptodactyly, Mesomelia, Abnormality of th... OMIM:618529
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Cleft palate, Joint contracture of the hand... OMIM:601016
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Postaxial hand polydactyly, Short nose, Abnormal palate morphology, Recurrent resp... ORPHA:1389
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Capitate-hamate fusio... OMIM:102510
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Filippi Syndrome
Thin vermilion border, Short philtrum, Underdeveloped nasal alae, Finger clinodactyly, Abnormalit... OMIM:272440
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Limb undergrowth, Short long bone, Depressed nasal ridge, B... ORPHA:221054
Rosselli-Gulienetti Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Hypodontia, Anodontia, Cutaneous finge... OMIM:225000
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Sandal gap, Short distal phalanx of finge... OMIM:311300
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Short distal phalanx of finger, Hypogonadism, Short na... OMIM:302950
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... OMIM:300244
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Ca... OMIM:619110
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Dental crowding, Everted lower lip vermilion, Wide mouth, Broad nas... OMIM:615485
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal alae, Limb dupli... ORPHA:2378
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Al-Raqad Syndrome
Narrow mouth, Short nose, Sandal gap, Thin upper lip vermilion, Brachydactyly OMIM:616459
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion, Syndactyly, Cleft pa... OMIM:614701
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Fibular ... OMIM:165590
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Choanal stenosis, Finger syndactyly, Dental cro... OMIM:101600
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Abnormality of the metacarpal bone... ORPHA:950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Hypogonadism, Brachydactyly OMIM:615982
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Micromelia, Pulmonary hypoplasia, Microglossia, Cleft pal... OMIM:241800
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip, Chronic... ORPHA:1991
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short nose, Anteverted nares, Abnormality of dental morph... ORPHA:1716
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Nathalie Syndrome
Abnormal EKG OMIM:255990
Mohr Syndrome
Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, High palate,... OMIM:252100
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Clinodactyly, Hyposmia, Cleft lip, Cleft palate, Hypogonadotropic hypogonadism OMIM:614838
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Long philtrum, Short nose, Intestinal malrotation, Smooth philtrum, Wide ... ORPHA:401935
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Pierre-Robin sequence, Cleft palate, Anteverted nares, Epiphyseal dysplasia OMIM:184840
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia, ... ORPHA:2141
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno... ORPHA:971
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival overgrowth, Depressed na... ORPHA:1832
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Short nose, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93259
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndac... ORPHA:380
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Short nose, Open mouth, Everted lower lip vermilion, Deep phil... OMIM:137550
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Selective tooth agenesis, Conical tooth, Triphalangeal thumb, Brachydactyly OMIM:124480
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Bifid epiglottis, Choanal atresia, Cleft palate OMIM:241850
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Desbuquois Dysplasia 1
Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ... OMIM:251450
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Miller-Dieker Syndrome
Abnormality of upper lip, Clinodactyly of the 5th finger, Anteverted nares, Short nose ORPHA:531
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge ORPHA:438178
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Non-midline cleft lip, Sandal gap, Aplasia/Hypop... ORPHA:2725
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Depressed nasal tip, Pr... ORPHA:3332
Pierpont Syndrome
Prominent median palatal raphe, Deep palmar crease, Short toe, Thin vermilion border, Short nose,... OMIM:602342
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Testicular atrophy, Syndactyly, Pulmonary hypoplasia, Cli... OMIM:601163
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cleft lip, Cleft palate OMIM:612370
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Finger syndactyly, Split hand, Aplasia/Hypoplasia of the lungs, C... ORPHA:2145
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Cleft palate, Short foot OMIM:300261
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Chung-Jansen Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Short nose, Clinodactyly, Tapered finger, H... OMIM:617991
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Open mouth, Camptodactyly, Thin upper lip vermilion, Clinodactyly, High... OMIM:613604
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Short nose, Elbow dislocation, Rhizomelia, Micromelia, ... ORPHA:93329
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Everted lower lip vermilion, High palate, Depressed nasal bridge ORPHA:1695
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Square pelvis bone, Micromelia, Bowing of the long bones, ... ORPHA:166272
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Short nose OMIM:122880
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Abnormality of the nose, Curved distal phalanges of the... ORPHA:3152
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Zechi-Ceide Syndrome
Oligodontia, Short metatarsal, Underdeveloped nasal alae, Sandal gap, Wide nasal bridge, Short di... OMIM:612916
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Prolonged QTc interval, Torsad... OMIM:616878
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Slender ... ORPHA:916
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Short nose, Thin upper lip vermilion, Broad nasal tip, High palate, Single transve... OMIM:613544
Mental Retardation, Autosomal Dominant 20
Short philtrum, Short nose, Downturned corners of mouth, Anteverted nares, Depressed nasal bridge OMIM:613443
Autosomal Dominant Omodysplasia
Long philtrum, Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Sh... ORPHA:93328
Summitt Syndrome
Syndactyly OMIM:272350
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Broad nasal tip, Tented upper lip vermilion, Wide nasal bridge, Cleft palate OMIM:614207
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Cubitus valgus, Camptodactyly of finger, Scapular winging, Toe syndactyly, Short nose,... ORPHA:1327
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Cutaneous finger syndactyly, Clubbing of toes, Swan neck-like deformities of... ORPHA:329252
Rapadilino Syndrome
Slender nose, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Cleft palate, ... OMIM:266280
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Widely spaced teeth, Selectiv... ORPHA:1897
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Short nose, Anosmia, Abnormality of the nares, Short distal phalanx of finger, Abnor... ORPHA:1295
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... ORPHA:423
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block OMIM:310300
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Depressed nasal bridge, Cleft palate, Bifid uvula, High, narrow palate, Ar... OMIM:604841
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Edinburgh Malformation Syndrome
Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Choanal atresia, Sl... ORPHA:1895
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose DECIPHER:52
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Hallux valgus, Cl... OMIM:216800
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Short palm, Depres... ORPHA:3210
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism, High palate, Aplasi... ORPHA:1135
Cleft Palate, Cardiac Defects, And Mental Retardation
Broad thumb, 2-3 toe syndactyly, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Cleft p... OMIM:600987
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Short nose, Limb undergrowth, Coarse metaphyseal trabecularization, Short lo... OMIM:618961
Bartsocas-Papas Syndrome
Toe syndactyly, Short nose, Underdeveloped nasal alae, Finger syndactyly, Narrow mouth, Aplasia/H... ORPHA:1234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Elbow ankylosis, Hypoplas... ORPHA:2557
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Primary amenorrhea, Tooth agenesis, Clinodactyly, Cleft upper lip, Clef... OMIM:147950
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Abnormality of dental morph... ORPHA:2251
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Monosomy 5P
Finger syndactyly, High palate, Small hand, Wide nasal bridge ORPHA:281
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Hand polydactyly, Broad nasal tip, Toe syndactyly, Camptodactyly, Abnorm... OMIM:258865
5Q14.3 Microdeletion Syndrome
Short philtrum, Toe syndactyly, Short nose, Open mouth, Anteverted nares ORPHA:228384
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Non-... ORPHA:3429
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Gms Syndrome
Short philtrum, Short nose, Small hand, Short palm, Depressed nasal bridge OMIM:138770
Acromelic Frontonasal Dysostosis
Broad nasal tip, Polydactyly, Midline defect of the nose, Preaxial polydactyly, Wide nasal bridge... OMIM:603671
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Finger syndactyly, Rhizomelia, Everted lower lip ... ORPHA:1515
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Moebius Syndrome
Short phalanx of finger, Abnormal nasopharynx morphology, Split hand, Camptodactyly, High palate,... OMIM:157900
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Hypodontia, Clinodactyly, Anal atresia, Cleft upper lip, Cutaneou... OMIM:119580
Brachydactyly, Type B1
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... OMIM:113000
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Wide nasal bridge, Cleft palate, Arachnodactyly ORPHA:93946
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Short nose, Narrow nasal bridge ORPHA:1514
Pfeiffer Syndrome
Hip dysplasia, Short philtrum, Broad thumb, Open mouth, Synostosis of carpal bones, Finger syndac... ORPHA:710
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Jackson-Weiss Syndrome
Convex nasal ridge, Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3... ORPHA:1540
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of meta... ORPHA:163966
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Short nose, Radioulnar synostosis, Preaxial foot polyd... ORPHA:1988
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Cleft lip, Increased ... OMIM:618761
Fibrochondrogenesis 2
Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ischia, Me... OMIM:614524
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Short nose, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93260
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Short nose, Anteverted nares, Abnormality of the elbow, Abn... ORPHA:2701
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Cenani-Lenz Syndrome
Oligodactyly, Convex nasal ridge, Hypoplasia of the radius, Abnormal dental enamel morphology, To... ORPHA:3258
Craniofaciofrontodigital Syndrome
Long philtrum, Abnormal thumb morphology, Short nose, Thick vermilion border, Wide nasal bridge, ... ORPHA:363705
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Diastrophic Dysplasia
Hitchhiker thumb, Laryngotracheal stenosis, Short finger, Irregular epiphyses, Short long bone, C... OMIM:222600
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Abnormal palate morphology, Recurrent pneumonia ORPHA:1495
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, 2-3 toe syndactyl... OMIM:608572
Ruvalcaba Syndrome
Convex nasal ridge, Thin vermilion border, Abnormality of vertebral epiphysis morphology, Short n... ORPHA:3121
Verheij Syndrome
Long philtrum, Short nose, Wide nasal bridge, Thin upper lip vermilion, Clinodactyly, Hip disloca... OMIM:615583
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the d... ORPHA:1794
2Q32Q33 Microdeletion Syndrome
Convex nasal ridge, Thin vermilion border, Oligodontia, Broad thumb, Narrow mouth, Anteverted nar... ORPHA:251019
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Ogden Syndrome
Arrhythmia, Ventricular extrasystoles, Ventricular tachycardia, Supraventricular tachycardia, Tor... OMIM:300855
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Preaxial hand polydactyly, Abnormality of epiphysis morphology, Rhizom... ORPHA:3098
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Everted lower lip vermilion, Wide mouth, Thin upper lip vermilion ORPHA:2429
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, High palate, Short nose ORPHA:2598
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Hemiatrophy of upper limb, Short nose, Down... ORPHA:163649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Short nose, Narrow mouth, Dental crowding, Camptodactyly, High palate, Talipes equ... OMIM:615539
Coffin-Siris Syndrome 9
Abnormality of the columella, Short philtrum, Short nose, Underdeveloped nasal alae, Open mouth, ... OMIM:615866
Blepharonasofacial Malformation Syndrome
Long philtrum, Underdeveloped nasal alae, Finger syndactyly, Non-midline cleft lip, Wide nasal br... ORPHA:1252
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Cleft palate, ... OMIM:600325
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, S... OMIM:617877
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Narrow mouth, Upper limb phocomelia, Finger syndactyly, ... ORPHA:989
Stickler Syndrome Type 1
Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormality of epiphysi... ORPHA:90653
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Anteverted nares, Depressed nasal bridge OMIM:614744
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Downturned corners of mouth, Camptodactyly, Wide nasal bridge, Syndactyly OMIM:614230
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Progeroid Facial Appearance With Hand Anomalies
Thin vermilion border, Short philtrum, Narrow mouth, Joint contracture of the 5th finger, Cutaneo... OMIM:602249
Perlman Syndrome
Short nose, Open mouth, Smooth philtrum, Bilateral single transverse palmar creases, Wide nasal b... ORPHA:2849
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Short nose, Wide nasal bridge OMIM:612563
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Camptodactyly, Irregular dentition, Syndactyly, Pulmonary lymphangiectasia, Intesti... OMIM:616006
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft lip, Cleft palate ORPHA:85273
Ohdo Syndrome
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Hypoplasia of teeth, Smooth philt... OMIM:249620
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Gitelman Syndrome
Hypotension, Palpitations, Prolonged QT interval, Ventricular tachycardia OMIM:263800
Oculofaciocardiodental Syndrome
Oligodontia, Flexion contracture of the 2nd toe, Peripheral pulmonary artery stenosis, Intestinal... ORPHA:2712
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Congenital hip dislocat... ORPHA:1458
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly, Advanced eruption of teeth ORPHA:2266
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Short nose, Wide nasal bridge, Ulnar deviation of the wrist, Clinodactyly, Broad p... OMIM:618577
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Toe syndactyly, Short nose, Radioulnar synostosis, Short co... ORPHA:171839
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Short nose, Narrow nasal bridge OMIM:618379
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Hypodontia, Anodontia, Cutaneous finge... OMIM:225060
C Syndrome
Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Short nose, Wide mouth, Limb ... OMIM:211750
Cardiomyopathy, Familial Hypertrophic, 4
Right bundle branch block, Left bundle branch block, Atrioventricular block, Ventricular fibrilla... OMIM:115197
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Short nose, Everted lower lip v... ORPHA:1702
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Genu valgum, Primary amenorrhea, Cleft palate OMIM:614880
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Craniofrontonasal Dysplasia
Camptodactyly of finger, Hand polydactyly, Finger syndactyly, Broad hallux phalanx, Midline defec... ORPHA:1520
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Short nose, Depressed nasal bridge OMIM:616910
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Pterygium Colli, Isolated
Short nose OMIM:177990
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic ilia... OMIM:300863
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Mental Retardation With Language Impairment And With Or Without Autistic Features
Drooling, Short nose, Open mouth, Broad nasal tip OMIM:613670
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Marshall Syndrome
Radial bowing, Long philtrum, Small proximal tibial epiphyses, Short nose, Thick lower lip vermil... OMIM:154780
Aarskog-Scott Syndrome
Short 5th finger, Short nose, Anteverted nares, Broad palm, Curved linear dimple below the lower ... OMIM:305400
Aarskog-Scott Syndrome
Camptodactyly of finger, Long philtrum, Delayed eruption of teeth, Broad palm, Finger syndactyly,... ORPHA:915
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Short nose, Rhizomelia, Irregular iliac crest, Abnorma... ORPHA:168549
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Agenesis of permanent teeth, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxi... OMIM:614091
Tetrasomy 18P
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Large hands ORPHA:3307
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Short nose, Downturned corners of mouth, Abnormal soft ... ORPHA:884
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Short nose, Pierre-Robin sequence, High palate, Abnormality... ORPHA:1358
Baker-Gordon Syndrome
Thin upper lip vermilion, Smooth philtrum, Short nose, Prominent nasal tip OMIM:618218
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Short middle... OMIM:203550
Teebi Hypertelorism Syndrome
Long philtrum, Short nose, Broad palm, Dental crowding, Natal tooth, Wide nasal bridge, Small han... OMIM:145420
Achondrogenesis Type 1B
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Talipes equinovarus, Ante... ORPHA:93298
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Downturned corners of mouth, Open mouth, Everted lower lip vermilion, Broad columella... OMIM:617865
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Diprosopus
Abnormality of the nose, Non-midline cleft lip, Cleft palate ORPHA:1681
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Oral cleft, Cleft palate, Short mandibular rami, Complete duplication of t... OMIM:141400
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613038
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Underdeveloped nasal alae, Short distal phalanx of finger, Broad hal... OMIM:184460
Isolated Cloverleaf Skull Syndrome
Convex nasal ridge, Finger syndactyly ORPHA:2343
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft upper lip, Cleft palate OMIM:600251
Achondrogenesis Type 1A
Long philtrum, Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Anteverted nares, Short p... ORPHA:93299
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Depressed nasal bri... ORPHA:439822
Vitamin K Antagonist Embryofetopathy
Macroglossia, Epiphyseal stippling, Short nose, Choanal atresia, Short distal phalanx of finger, ... ORPHA:1914
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Short nose, Bulbous nose, Tented upper lip vermilion, High palate, Depressed nasal... OMIM:614105
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... ORPHA:2319
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Short nose, 2-3 toe syndactyly, Wide nasal bridge, High palate, Tape... OMIM:218000
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Hitchhiker thumb, Short middle phalanx of finger, Short greater sciatic no... OMIM:256050
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous nose, Aganglionic meg... OMIM:613870
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mouth, Thick lower l... ORPHA:870
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Carpal synostosis, Abnormality of the wrist, Cleft palate, Oligodontia of prim... ORPHA:2010
Hypomelanosis Of Ito
Hand polydactyly, Irregularly spaced teeth, Radial deviation of finger, Clinodactyly, Syndactyly,... OMIM:300337
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Epiphyseal stippling, Short nose, Epistaxis OMIM:277450
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Increased size of nasopharyngeal adenoids, Toe cl... ORPHA:457395
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Short nose, Cone-shaped epiphysis, Short metacarpal, B... OMIM:614613
Myotonic Dystrophy 2