Gene Summary

Name:
ArfGAP with SH3 domain, ankyrin repeat and PH domain1
Synonyms:
Ddef1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Asap1em1(IMPC)Wtsi HET   Early adult 0.0265
preweaning lethality, incomplete penetrance Asap1em1(IMPC)Wtsi HOM   Early adult 0.00108
prolonged RR interval Asap1em1(IMPC)Wtsi HOM Early adult 1.91×10-19
decreased heart rate Asap1em1(IMPC)Wtsi HOM Early adult 2.33×10-08

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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.

Legacy Phenotype Associated Images

View all 25 images

Human diseases caused by Asap1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Asap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Generalized lipodystrophy, Intrauterine g... ORPHA:50811
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Failure to thrive... OMIM:608154
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Acromesomelic Dysplasia 2A
Short tibia, Distal tibiofibular synostosis, Aplasia/Hypoplasia of the patella, Short foot, Dispr... OMIM:200700
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Dis... ORPHA:94068
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... OMIM:600121
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bones, Osteopen... OMIM:613848
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth ret... OMIM:616897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Deviation of finger, Malar flattening, Inguinal hernia, Prominence of... ORPHA:2412
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... OMIM:100800
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ... OMIM:132400
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes... OMIM:108720
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Macrocepha... OMIM:614753
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Prominence of t... OMIM:602535
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa... ORPHA:439822
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, ... ORPHA:1860
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... ORPHA:99642
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Relative macrocephaly, Intrauterine growth retardation, Hy... OMIM:617396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Prominence of the premaxilla, Decreased body weight, Microceph... OMIM:614886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Elbow ... OMIM:108721
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, Short met... OMIM:612350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... ORPHA:1190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Microcepha... ORPHA:85279
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Reduced bone mineral density, Inguinal hernia, Decreased body weight, Brachydactyly, Sh... OMIM:618392
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Death in childhood, Decreased body weight, Dislocated radial head, Hip dislocation,... OMIM:610758
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p... ORPHA:763
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Short foot, Hypoplasi... ORPHA:915
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Cutaneous syndactyly of toes, Small hypothenar eminence, Contracture of the proxi... ORPHA:2872
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Intrauterin... OMIM:620494
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Hypoplasia of the maxilla, Platyspondyly, Femoral bowing, Malar... OMIM:231070
Recon Progeroid Syndrome
Growth delay, Delayed eruption of permanent teeth, Long thumb, Prominence of the premaxilla, Arac... OMIM:620370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan... OMIM:166250
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation, 11 pairs of ribs, Decreased body weight, M... OMIM:618724
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Intrauterine gr... OMIM:619795
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Decreased body weight, Short neck, Pes planus, D... OMIM:615222
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... ORPHA:1159
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Ruvalcaba Syndrome
Small hand, Scoliosis, Kyphosis, Micromelia, Limited elbow extension, Inguinal hernia, Microcepha... OMIM:180870
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d... ORPHA:79345
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Osteopenia, Broad femoral neck, Failure to thrive, Flexion contracture, Moderately... ORPHA:157965
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-sha... ORPHA:397973
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop... OMIM:620099
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Small for gestatio... OMIM:216550
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Broad thumb, Clinodactyly, Hyperplasia of the maxilla, Failure to thrive, Long hallux... OMIM:620194
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Microcephaly, Hy... OMIM:612447
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Short foot, Short metacarpal, Hypoplasia of the maxilla... OMIM:170390
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Kyphomelic Dysplasia
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micro... OMIM:211350
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short... OMIM:305400
Hypochondroplasia
Disproportionate short-limb short stature, Flared metaphysis, Widened interpedicular distance, Lu... OMIM:146000
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Frontonasal Dysplasia 1
Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge... OMIM:136760
Aicardi Syndrome
Small hand, Block vertebrae, Butterfly vertebrae, Prominence of the premaxilla, Hiatus hernia, Mi... ORPHA:50
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil... OMIM:300280
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Martsolf Syndrome 1
Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint hypermobility, Short... OMIM:212720
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... OMIM:224690
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Postnatal g... OMIM:265050
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Respiratory distress, Butterfly vertebrae... OMIM:607143
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c... OMIM:210710
Premature Aging Syndrome, Penttinen Type
Micrognathia, Flexion contracture of finger, Short foot, Hypoplasia of the maxilla, Keloids, Tibi... OMIM:601812
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Omphalocele, Scoliosis, Short femur OMIM:601357
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... OMIM:616145
Aicardi Syndrome
Block vertebrae, Postnatal growth retardation, Butterfly vertebrae, Prominence of the premaxilla,... OMIM:304050
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodac... ORPHA:776
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Spinal canal stenosis, Intrauterine growth retardation, Obesity, Malar fla... OMIM:614613
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... OMIM:611717
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Hyperplasia of the maxilla OMIM:618383
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo... ORPHA:249
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Patchy distortion of vertebrae, Verteb... ORPHA:1248
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Shprintzen-Goldberg Syndrome
Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bones, Pes planu... ORPHA:2462
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Short neck, Thor... OMIM:114300
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan... OMIM:615777
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Split-Hand/Foot Malformation 3
Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand OMIM:246560
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Three M Syndrome 1
Short 5th finger, Mandibular prognathia, Small for gestational age, Slender long bone, Postnatal ... OMIM:273750
Illum Syndrome
Bradycardia OMIM:208155
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral h... ORPHA:536467
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Respiratory distress, Femoral bow... OMIM:618188
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Herniation of intervertebral nuclei, Intervertebral spa... OMIM:601216
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Decre... OMIM:300534
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Sandal gap, Failure to thrive, Intrauterine growth retardation, Congenital diaphra... OMIM:617602
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad thumb, Malar flattening, Macrocephaly, Short stature, Broad hall... ORPHA:261295
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral b... OMIM:102370
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Disproportionate short-trunk sh... ORPHA:457395
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-limb short s... OMIM:259420
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the ... OMIM:613805
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... OMIM:277170
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph... ORPHA:90653
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the... ORPHA:1529
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Meier-Gorlin Syndrome 4
Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Failure to thrive, Intrauterine gr... OMIM:613804
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Narrow palm, Arachnodactyly, Hypoplasia of the maxi... ORPHA:193
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Intrauterine growth retardation, Microce... ORPHA:765
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equinovarus, Pe... OMIM:182212
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Long foot, Slender build, Long palm, Macrocephaly, Scoliosis, Mandibul... OMIM:300676
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Secondary microcephaly, Talipes, Short neck, Short hallu... ORPHA:508488
Developmental And Speech Delay Due To Sox5 Deficiency
Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Verteb... ORPHA:313892
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Tali... OMIM:601559
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormal mandible morphology ORPHA:401942
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Broad thumb, Broad hallux, Failure to thrive, Wrist hypermobility, Joi... ORPHA:481152
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of th... ORPHA:1307
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Short finger, Avascular ne... OMIM:190351
Van Maldergem Syndrome 1
Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Tracheomalacia, Abnorma... OMIM:601390
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased body weight, Microcephaly, Short stature, Mandibular prognat... ORPHA:93950
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Elbow dislocation, Arachnodactyly, Hip dislocation, Osteopenia, Knee dislocation,... OMIM:620083
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Inguinal hernia, Prominence of the p... OMIM:614437
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Osteogenesis Imperfecta, Type Viii
Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metacarpal, Osteo... OMIM:610915
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Osteopenia, Hypopla... OMIM:615546
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Joint hypermobilit... OMIM:130000
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero... OMIM:112350
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Pes planus, Large hands, Short metacarpal, H... ORPHA:192
Lowry-Maclean Syndrome
Osteopenia, Hypoplasia of the maxilla, Retrognathia, Intrauterine growth retardation, Micrognathi... ORPHA:2409
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Flexion contracture, Scoliosis, Tape... OMIM:218000
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Wide distal femoral metaphysis, Umbilical hernia, Incre... OMIM:614856
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
3M Syndrome
Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, Clinodactyl... ORPHA:2616
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasia, Tracheomala... OMIM:613803
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Limitation of joint mobility, Sandal gap, Finger syndactyly, Camptodac... ORPHA:178303
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Respiratory dist... OMIM:617102
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Decreased body w... OMIM:618265
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Ear-Patella-Short Stature Syndrome
Severe short stature, Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology... ORPHA:2554
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus... OMIM:264090
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... ORPHA:93356
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal su... OMIM:608612
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Long foot, Metaphyseal sclerosis, Genu valgum, Delayed pubic bone oss... ORPHA:2976
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver... OMIM:139210
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Micrognathia,... OMIM:600920
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Type E brachydactyly, Short stature, Short phalanx of finger, Short metaca... OMIM:112410
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Severe postnatal growth reta... ORPHA:2399
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... ORPHA:1826
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Wiedemann-Steiner Syndrome
Short 5th finger, Small hand, Short toe, Failure to thrive, Long hallux, Contracture of the dista... OMIM:605130
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyly of finger, Metaca... ORPHA:2774
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Failure to thrive, Progr... OMIM:614261
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormality of the vertebral column, Malar flattening, Macrocephaly, S... OMIM:109120
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Slender build, Reduced subcutaneous adipose tissue, Synovitis, Irregular sclerotic e... ORPHA:3455
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydacty... OMIM:252100
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Spin... OMIM:307800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Wrinkly Skin Syndrome
Carious teeth, Postnatal growth retardation, Pes planus, Multiple plantar creases, Osteopenia, Mu... ORPHA:2834
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Pes planus, Small for gestational age OMIM:618302
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Inguinal hernia, Kyphoscoliosis, Limb unde... OMIM:608149
Three M Syndrome 2
Short 5th finger, Severe short stature, Dental malocclusion, Slender long bone, Clinodactyly, Del... OMIM:612921
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re... ORPHA:96334
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Coronal craniosynostosis, Abnormal foo... ORPHA:2095
Three M Syndrome 3
Slender long bone, Increased vertebral height, Joint hypermobility, Decreased body weight, Microc... OMIM:614205
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Disproportionate short-limb short stature, Micromelia, Metaphyseal spurs, Irregula... OMIM:608728
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Myhre Syndrome
Severe short stature, Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia... ORPHA:2588
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal meta... ORPHA:93262
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Joint hypermobility, Microcephaly, Macrocephaly, Growth delay, Short femur OMIM:617798
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Respiratory distress, Apnea, Short humerus, Polydactyly, Microcephaly, Flexion... ORPHA:17
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Microcephalic osteodysplastic primordial dwarfism, type III
Severe short stature, Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital fem... OMIM:210730
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Short toe, Retrognathia, Delayed... OMIM:619269
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Short Syndrome
Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Delayed eruptio... OMIM:269880
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad phalanges of the hand, Scoliosis, Short finger, Elbow flexion co... OMIM:608328
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh... OMIM:271665
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ... OMIM:143095
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... ORPHA:77258
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Narrow vertebr... OMIM:618395
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Large for gestati... OMIM:612731
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla, Joint hypermobility OMIM:613671
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Talipes equinovarus,... OMIM:604320
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:794
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Fem... OMIM:616723
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Decreased body... OMIM:271640
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Pes... OMIM:213980
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Broad phalanges of the hand, Scoliosis, Spinal canal stenosis, Joint s... OMIM:277600
Primary Pulmonary Hypoplasia
Failure to thrive, Patellar hypoplasia, Intrauterine growth retardation, Micrognathia, Apnea, Mic... ORPHA:2257
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Short 1st metac... OMIM:620076
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Lumbar scoliosis, Metaphyseal dysplasia, Short m... OMIM:600373
Brachydactyly-Arterial Hypertension Syndrome
Short stature, Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormal distal phalanx morphology of finger, Intrauterine growth r... ORPHA:2673
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Jo... ORPHA:245
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Delayed eruption of teeth, Micrognathia, Joint hypermobility, Tal... OMIM:300990
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Cerebrofacioarticular Syndrome
Osteopenia, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Micrognathia, Talipes eq... ORPHA:314679
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Inguinal hernia, Knee flexi... OMIM:609220
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... ORPHA:93357
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Small hypothenar eminence, Thin metac... ORPHA:2463
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, ... OMIM:617952
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum... OMIM:602557
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Failure to thrive, Postnatal macrocephaly, Micrognathia,... OMIM:620157
Meier-Gorlin Syndrome 2
Slender long bone, Tracheomalacia, Failure to thrive, Intrauterine growth retardation, Micrognath... OMIM:613800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Short toe, Umbilical hernia, Atrophic scars, Postnatal growth retardation, Micrognath... OMIM:225410
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short stature, Short phalanx of finger, Coxa valga OMIM:132450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Micrognathia, Joint hypermobility, Arachnodactyly, Macroc... OMIM:309520
Kenny-Caffey Syndrome, Type 1
Small hand, Carious teeth, Slender long bone, Intrauterine growth retardation, Proportionate shor... OMIM:244460
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Platyspondyly, Carious teeth, Femoral bowing, Osteoporosis, Sco... OMIM:126550
Frontorhiny
Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Pe... ORPHA:391474
Joubert Syndrome 7
Episodic tachypnea, Genu valgum, Postaxial polydactyly, Tachypnea, Central apnea, Postaxial hand ... OMIM:611560
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Failure to thrive, Small cervical vertebral bodies, Cervical spinal canal ... ORPHA:397715
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Lipomas of eyelids OMIM:167730
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone ossification, Genu varum, Irre... ORPHA:99646
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossific... ORPHA:1422
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... ORPHA:2975
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent fingertip pads, Postnatal gr... ORPHA:251061
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Atypical Rett Syndrome
Small hand, Scoliosis, Secondary microcephaly, Episodic tachypnea, Short foot, Growth delay, Kyph... ORPHA:3095
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary microcephaly, Micrognathia, Malar... ORPHA:79113
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
X-Linked Intellectual Disability, Porteous Type
Short stature, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight ORPHA:93945
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, Tooth abscess, Genu varu... ORPHA:289176
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, High iliac wing, Carious teeth, Delayed eruption of teeth, Posterior w... ORPHA:50814
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminen... OMIM:268305
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca... OMIM:601356
Stickler Syndrome
Slender build, Genu valgum, Micrognathia, Arachnodactyly, Cachexia, Hip dislocation, Protrusio ac... ORPHA:828
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Andersen-Tawil Syndrome
Small hand, Hypoplasia of the maxilla, Scoliosis, Persistence of primary teeth, Micrognathia, Joi... ORPHA:37553
Otodental Syndrome
Abnormal dental pulp morphology, Carious teeth, Abnormal molar morphology, Delayed eruption of te... ORPHA:2791
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Talipes equinovarus, Short tibia, Short femur OMIM:620306
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal meta... ORPHA:2636
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Neonatal death, Bradycardia OMIM:620351
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Sandal gap, Retrognathia,... OMIM:608156
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Micrognathia, Inguinal hernia, Tachypnea, Growth delay OMIM:614857
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse... OMIM:263650
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Micrognathia, Talipes equinova... OMIM:180849
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Carious teeth, Elbow dislocation, Failure of eruption of permanen... ORPHA:2769
Peters-Plus Syndrome
Square pelvis bone, Postnatal growth retardation, Micrognathia, Broad foot, Limited elbow movemen... OMIM:261540
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog... ORPHA:85167
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Marshall-Smith Syndrome
Slender long bone, Retrognathia, Failure to thrive, Increased susceptibility to fractures, Joint ... ORPHA:561
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth OMIM:619142
Frank-Ter Haar Syndrome
Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov... OMIM:249420
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Failure to thrive in infancy, Malar prominence, Genu valgum, Bowing o... ORPHA:231226
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Clinodactyly, Microcephaly, Metatarsus adductus, Short stature ORPHA:293939
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Intervertebral space n... OMIM:609162
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Micrognathia, Broad first metatarsal, Tachypnea, Con... ORPHA:2751
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia,... ORPHA:666
Distal Deletion 19P
Hypoplasia of the maxilla, Keloids, Umbilical hernia, Joint hypermobility, Arachnodactyly, Long t... ORPHA:96129
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Cowden Syndrome 5
Hypoplasia of the maxilla, Subcutaneous lipoma, Micrognathia, Progressive macrocephaly, Palmoplan... OMIM:615108
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:22890