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Gene: Gja1 MGI:95713

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
gap junction protein, alpha 1
Synonyms:
Cx43alpha1,  connexin 43,  Gja-1,  Cnx43,  Cx43,  connexin43,  alpha 1 connexin

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gja1 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 Gja1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Nasal congestion, Facial hyperos... OMIM:218400
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial septal defec... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... ORPHA:2710
Erythrokeratodermia Variabilis
Cataract, Patchy palmoplantar hyperkeratosis, Skin rash, Brachydactyly, Abnormal testis morpholog... ORPHA:317
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Craniometaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... ORPHA:1522
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Flexion contracture of finger ORPHA:1010

The table below shows human diseases predicted to be associated to Gja1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
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
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Palmoplantar keratoderma, Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversi... OMIM:611528
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
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
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Scapular winging, Ventricular fibrillation,... OMIM:613507
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Nathalie Syndrome
Abnormal EKG OMIM:255990
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Deleted in azoospermia
Azoospermia OMIM:400003
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Spermatogenic Failure 12
Azoospermia, Abnormal male germ cell morphology OMIM:615413
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... ORPHA:229
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Iris coloboma, Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Mitral regurgit... ORPHA:88630
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... ORPHA:1643
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infer... OMIM:615703
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... OMIM:170390
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... OMIM:620067
Naxos Disease
Palmoplantar keratoderma, Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventri... ORPHA:34217
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Decreased skull... ORPHA:1452
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h... OMIM:602390
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Tooth agenesis, Micrognathia, Bilateral single transverse palmar creases,... ORPHA:1964
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Sick sinus syndrome, Brachydac... OMIM:140450
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi... ORPHA:3145
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
3-Methylglutaconic Aciduria, Type V
Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Decreased testi... OMIM:610198
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Ascites, Tricuspid regurgitation, Pleural effusio... ORPHA:2414
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Spermatogenic Failure 17
Male infertility OMIM:617214
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... OMIM:314400
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Astigmatism, Single... OMIM:253250
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly, Pectus ... ORPHA:2835
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of ... ORPHA:83
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Timothy Syndrome
Pneumonia, Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Microdontia, Thin u... OMIM:601005
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in childhood, Death in infancy, Bradycardia OMIM:620265
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypopl... ORPHA:1798
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... ORPHA:1513
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Fle... OMIM:618815
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressiv... OMIM:620438
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Intrauterine growth retarda... OMIM:619048
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Posterior subcapsular cataract, Hypogonadism, Palpitations, Right... OMIM:602668
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial osteosclerosis... OMIM:122860
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Malar rash, Abnormal e... ORPHA:398124
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Malar f... ORPHA:2972
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Cryptorch... OMIM:272440
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Craniometadiaphyseal Dysplasia
Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, ... OMIM:269300
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive hear... ORPHA:91130
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, Protr... ORPHA:319171
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Type II diabetes mellitus, Polycystic ovarie... ORPHA:100
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Cryptorchidism, Everte... OMIM:611174
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu... OMIM:616501
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, P... OMIM:618652
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Cardiac arrest OMIM:618235
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contracture, Reduced left v... OMIM:181350
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Postnatal growth retard... OMIM:615440
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Aplastic clavicle, Hearing impairment, Delayed ossificatio... OMIM:620099
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Dental crowding, Misalignment of incisors, Astigmatism, Patent foramen ovale, Oligod... OMIM:619184
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A... OMIM:619825
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic aneurysm, Patent ductus arteriosus, Aortic regurgitation ORPHA:98892
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Flat Face-Microstomia-Ear Anomaly Syndrome
Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, High, narrow palate, Abnormal oral mucosa ... ORPHA:1968
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Microdont... OMIM:619736
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Chromosome 5Q12 Deletion Syndrome
Hypotension, Long philtrum, Micrognathia, Astigmatism, Patent foramen ovale, Ventricular septal d... OMIM:615668
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Ventricular septal defect OMIM:616277
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Paroxysmal ... OMIM:613205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Keratitis, Inc... OMIM:226670
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, In... ORPHA:275555
Acrofacial Dysostosis, Catania Type
Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,... ORPHA:1786
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Cryptorchidism, Single transverse palmar crease, Ventricular ... OMIM:619189
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Azoospermia, Radioulnar synostosis, ... ORPHA:99329
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620024
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad... OMIM:235200
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Axenfeld anomaly, Ventricular septal defect, Telangiectasia, Posterior embryotoxon,... OMIM:612582
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Atrophic scars, Narrow mouth, Inguinal hernia, Mitral regurgitati... OMIM:615539
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Right bundle branch block, Knee flexion contracture, Achilles ten... OMIM:300695
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Mitral valve prolapse, Short stature, Abnormality of the hypothalamus-pitui... ORPHA:2183
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Double Outlet Left Ventricle
Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmona... ORPHA:3427
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, T... ORPHA:2790
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia, Hyperhidrosi... OMIM:613576
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:280679
Toluene Embryopathy
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Mi... ORPHA:1920
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... ORPHA:402075
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Congestive heart failure,... ORPHA:528
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia OMIM:615821
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Carious teeth, Microretrognathia, Tooth agenesis, Small epiphyses, Genu va... OMIM:618363
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Congenital Factor Vii Deficiency
Epistaxis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage, ... ORPHA:327
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Oste... ORPHA:2776
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Mandibular prognathia, Clinodactyly, Downturned corners of mout... ORPHA:369891
Nager Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... ORPHA:245
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... ORPHA:335
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Lessel-Kreienkamp Syndrome
Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilion, Bicuspid aortic ... OMIM:619149
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the zygomatic bone, Joint hypermobility, Protrudin... ORPHA:1778
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Tricuspid regurgita... OMIM:618870
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... ORPHA:560
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Narrow mouth, Abnormal metacarpal morphology, Brachydacty... ORPHA:2370
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Br... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... OMIM:617072
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Pectus carinatum, Long phil... ORPHA:261295
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shortened QT interval, Pan... ORPHA:143
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Perching Syndrome
Respiratory distress, Camptodactyly, Cyanosis, Joint contracture OMIM:617055
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Azoospermia, Ambiguous genitalia, Short stature, Primary gonadal insuff... ORPHA:261519
Variegate Porphyria
Tachycardia OMIM:176200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Radioulnar synostosis, Microcephaly, Abnormality ... ORPHA:3268
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachyda... ORPHA:2643
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Exercise-induced rhabdomyolysis, Patent ... ORPHA:26793
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Low-set, posteriorl... ORPHA:1110
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... OMIM:268020
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Long philtrum, Micrognathia,... OMIM:618821
Lowry-Maclean Syndrome
Delayed eruption of teeth, Preauricular pit, Microcephaly, Convex nasal ridge, Craniosynostosis, ... OMIM:600252
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Oral mucosal blisters, Hypodontia, ... OMIM:226650
Marshall-Smith Syndrome
Aspiration pneumonia, Irregular dentition, Cryptorchidism, Prominence of the premaxilla, Ventricu... OMIM:602535
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Retrognathia, Umbilical hernia, Micrognathia, Joint contracture of the 5th finger, Jo... OMIM:618914
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Suleiman-El-Hattab Syndrome
Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm... OMIM:618950
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Overlapping toe, Overlapping fingers,... OMIM:618316
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Abnormality of the middle ear, High palate, Choanal atresi... ORPHA:861
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Polyc... ORPHA:79083
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Pulmonic stenosi... OMIM:212780
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Thin upper lip vermilion, Abnormal no... ORPHA:1295
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Pseudopseudohypoparathyroidism
Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, ... OMIM:612463
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Choanal atresia, Depressed nasal bridge, Midface retrusion, H... ORPHA:1555
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Midface retrusion, Toot... ORPHA:1248
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Steinert Myotonic Dystrophy
Decreased fertility, Talipes equinovarus, Pelvic girdle muscle weakness, Prolonged PR interval, S... ORPHA:273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Prematur... OMIM:609286
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Flexion cont... OMIM:203550
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Torsade de pointes, Recurrent otitis medi... OMIM:300855
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath... OMIM:300952
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... OMIM:601390
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal heart valve morphology, Abnormal hip bone morphology, Inguina... ORPHA:577
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Shortened QT interval, Pancreatic adenocarcinoma,... ORPHA:99880
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Midface retrusion, Hypoplasia of ... ORPHA:3253
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal he... ORPHA:329224
Even-Plus Syndrome
Epiphyseal dysplasia, Cataract, Atopic dermatitis, Dysplasia of the femoral head, Patent foramen ... OMIM:616854
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation OMIM:613876
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Prolidase Deficiency
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Hearing impairment, Hypoplasia of t... ORPHA:742
Schuurs-Hoeijmakers Syndrome
Downturned corners of mouth, Diastema, Cryptorchidism, Patent foramen ovale, Thin upper lip vermi... OMIM:615009
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Nasal congestion, Facial hyperos... OMIM:218400
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Atopic dermatitis, Dental malocclusion, Left ventricular systolic dys... OMIM:619719
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Umbilical hernia, Biventricular hypertrophy, Inguinal ... OMIM:620504
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Distal Deletion 10P
Intrauterine growth retardation, Cryptorchidism, Polycystic ovaries, Short stature, Hypoplasia of... ORPHA:1580
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Corneal opacity, Broad... OMIM:277950
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Death in infancy, Pulmonary insuffi... OMIM:619433
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal de... ORPHA:1812
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, ... ORPHA:294975
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial septal defec... OMIM:164200
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Hypoplasia of the maxilla, Abnormality o... ORPHA:193
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Micrognathia, Malar flattening, Thin bony cortex, Macrocephaly, Obtuse an... ORPHA:85184
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Pectus carinatum, Narrow chest, Dental malocclusion, Downturned corners o... ORPHA:1327
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ante... ORPHA:1703
Pfeiffer Syndrome
Wide nasal bridge, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Shor... ORPHA:710
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Pseudohypoparathyroidism, Type Ia
Cataract, Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Pseudohypoparathyroid... OMIM:103580
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Astigmatism, Taurodontia, Perimembranous ... OMIM:618205
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Diaphragmatic eventration, Microretrognathia, Sec... OMIM:616866
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Ab... ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Single transverse palmar crease, Atrial septal defec... OMIM:615502
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Tibial metaphyseal ir... ORPHA:457395
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral el... OMIM:166300
Van Maldergem Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Micrognathia, Irregular dentition, Se... OMIM:615546
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syn... OMIM:618727
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Micropenis, P... OMIM:616894
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response ... ORPHA:94089
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Cardiomyopathy, Heart block, Intrinsic hand muscle atrop... ORPHA:98912
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Frontonasal Dysplasia 1
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing i... OMIM:136760
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Hypospadias, Recurrent pneumonia, Dental malocclusion, Widely spa... OMIM:619293
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr... ORPHA:615
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, High palate, D... OMIM:210600
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Diabetes... ORPHA:2348
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Ventricular tachycard... OMIM:605676
Insulin-Like Growth Factor I, Resistance To
Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviation of finger, Long philtrum, Re... OMIM:270450
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Thin ribs, Joint contracture of the hand, Micrognathia, High palate, Abnormal pinna... OMIM:182212
Scorpion Envenomation
Acute pancreatitis, Mydriasis, Cardiogenic shock, Prominent U wave, Priapism, Congestive heart fa... ORPHA:466677
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Osteoporosis of vertebrae, ... OMIM:156510
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Prominent fingertip pads, Long philtrum, Abnormal heart morphology, Recurren... OMIM:618494
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Wide nose ORPHA:3074
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Long philtrum, Short thorax, Macrocephaly, Anteve... ORPHA:93298
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95717
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Craniolenticulosutural Dysplasia
Wide nasal bridge, Bifid uvula, Osteopenia, Carious teeth, Midface retrusion, Delayed eruption of... OMIM:607812
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Patent foramen ovale, ... OMIM:610883
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Impotence ORPHA:85447
Hajdu-Cheney Syndrome
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased... ORPHA:955
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ... ORPHA:90322
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Left ventricular hypertrophy, Bradycardia OMIM:614654
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... ORPHA:2025
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... ORPHA:392
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Cataract, Broad distal phalanx of the thumb, Pituitary resistance to thyr... ORPHA:79444
Pseudohypoparathyroidism, Type Ic
Cataract, Delayed eruption of teeth, Hypogonadism, Pseudohypoparathyroidism, Hypothyroidism, Enam... OMIM:612462
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Osteopenia, Pectus carinatum, Hypoplasia of the zygomatic bone, Velopharyngeal insu... OMIM:620663
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Ventricular septal defect, Aortic valve prolapse, Talipes equinovarus, ... OMIM:619980
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Single transverse palmar crease, Adducted thumb, Brachydactyl... OMIM:620062
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Large earlobe, Malar prominence, Joint h... ORPHA:2715
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Dental crowding, Clinodactyly, Thick lower lip vermilion, S... ORPHA:293939
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, ST segment elevat... OMIM:261740
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Premature thelarche, Ventricular... OMIM:616878
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Chronic otiti... ORPHA:10
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met... OMIM:234250
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Postnatal growth retardation, Hyperinsuline... OMIM:246200
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Young Syndrome
Azoospermia OMIM:279000
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... ORPHA:1345
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int... OMIM:613849
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Preauricular skin tag, Cupped ear, Co... OMIM:616367
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Seckel Syndrome 5
Clitoral hypertrophy, Retrognathia, Selective tooth agenesis, Micrognathia, Cryptorchidism, Oligo... OMIM:613823
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone o... OMIM:608154
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Prominent median palata... OMIM:300602
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili... ORPHA:177907
8Q22.1 Microdeletion Syndrome
Low-set ears, Depressed nasal ridge, Hypoplasia of the maxilla, Wide nasal bridge, Abnormality of... ORPHA:178303
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Megalocornea, Abnormal dental enamel ... ORPHA:3163
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Hypoplasia of th... ORPHA:958
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Hyperhidrosis, Oral mucosal blisters ORPHA:79406
Myofibrillar Myopathy 10
Increased QRS voltage, Sandal gap, Elbow flexion contracture, Flexion contracture of finger, Prol... OMIM:619040
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th... OMIM:613717
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp, Enam... ORPHA:79402
Xp22.13P22.2 Duplication Syndrome
Short stature, Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
Alpha-Mannosidosis
Craniofacial hyperostosis, Cataract, Dental malocclusion, Widely spaced teeth, Open bite, Gingiva... ORPHA:61
Cockayne Syndrome Type 1
Abnormality of the dentition, Cataract, Male hypogonadism, Foot joint contracture, Widely spaced ... ORPHA:90321
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Temple-Baraitser Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Everted upper lip vermilion... ORPHA:420561
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... ORPHA:915
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Hepatitis, Hypohidrosis, Palmoplantar hyperkeratosis, Enamel hypoplasia, Thick ver... ORPHA:363523
Congenital Syphilis
Pneumonia, Cataract, Keratitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatos... ORPHA:499009
Grant Syndrome
Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Open bite, Micrognathia, ... ORPHA:2097
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Polycystic ovaries, Vent... ORPHA:371428
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, Talipes equinovarus, First deg... OMIM:617336
Transaldolase Deficiency
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventr... OMIM:606003
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Alagille Syndrome
Short distal phalanx of finger, Keratoconus, Micrognathia, Abnormal pupil morphology, Cryptorchid... ORPHA:52
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... ORPHA:3019
Coffin-Siris Syndrome 7
Downturned corners of mouth, Thick lower lip vermilion, Recurrent otitis media, Patent foramen ov... OMIM:618027
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Micr... ORPHA:276422
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis, Cor pulmonale OMIM:263000
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Gitelman Syndrome
Rhabdomyolysis, Parathyroid adenoma, Tubulointerstitial nephritis, Ventricular fibrillation, Prol... ORPHA:358
Temtamy Syndrome
Aortic regurgitation, Dental crowding, Ectopia lentis, Long philtrum, Chorioretinal coloboma, Mic... OMIM:218340
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Midface retrusion, Bulbous nose, Protruding ear, Thin upper lip vermil... OMIM:618737
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Prominent nasal bridge, Macrocephaly, ... OMIM:300676
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality... ORPHA:1617
1Q21.1 Microduplication Syndrome
Cataract, Arthrogryposis multiplex congenita, Failure to thrive, Tetralogy of Fallot, Cryptorchid... ORPHA:250994
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Bowing of limbs due to mu... OMIM:259420
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Patent foramen ovale, Atrial septal defect, Adducted thumb, Rocker bottom foot... ORPHA:89844
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Sensorineural heari... ORPHA:71267
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation OMIM:613874
Shaheen Syndrome
Carious teeth, Palmoplantar hyperkeratosis, Hypohidrosis, Enamel hypoplasia OMIM:615328
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Short stature, Polycystic ovaries OMIM:616831
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Lowry-Maclean Syndrome
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, High, narrow palate, Osteopenia, Retrog... ORPHA:2409
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Azoospermia, Amenorrhea, Short stature, Infertility, Diabetes insipidus ORPHA:1445
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Foot joint contracture, Narrow nasal bridge, Micrognathia, ... ORPHA:166108
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognath... OMIM:201000
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Cataract, Rectovaginal fistula, Delayed eruption of... OMIM:600373
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Wide nasal bridge, Narrow chest, Abnormal clavicle morphology, Downturned corners o... ORPHA:93267
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum... OMIM:613603
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Oculoskeletodental Syndrome
Short 5th finger, Abnormality of the dentition, Clinodactyly, Retrognathia, Hypoplasia of the cap... ORPHA:557003
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... OMIM:617052
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Jo... ORPHA:137834
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Cataract, Broad distal phalanx of the thumb, Short 3rd metacarpal, ... ORPHA:79443
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Joint hypermobility, ... ORPHA:90653
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Talipes equinovarus, ... ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Cataract, Failure to thrive, Hypertrophic cardiom... OMIM:617228
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Open mouth, Cryptorchidism, Patent foramen ovale, Talipes equinovarus, Transpositio... OMIM:616789
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Pancytopenia, Splenomegaly, Ventricular septal... OMIM:614576
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Long philtrum, Macrocephaly, Anteverted nares, Mi... ORPHA:93299
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Low-set ears, Retrognathia, Prominent nose, Supernumerary ribs, Osteoporosis, Abnormal number of ... ORPHA:2958
Short Stature, Dauber-Argente Type
Osteopenia, Microcephaly, Reduced bone mineral density, Delayed eruption of teeth OMIM:619489
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly OMIM:615983
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... ORPHA:1388
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent otitis media, Narrow... OMIM:129400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal dental enamel morphology, Bulbo... ORPHA:2180
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Ankyloglossia, Malar flattening, Mitral valve prolapse, Bilateral cleft palate, Thin... OMIM:618874
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Anteverted nares, Wide mouth, Exaggerated cupid's bow, Microcephaly, Posteriorly ro... OMIM:618506
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Velopharyngeal ins... ORPHA:199306
Pycnodysostosis
Carious teeth, Micrognathia, Mild conductive hearing impairment, Delayed eruption of primary teet... ORPHA:763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Genu valgum, Cryptorchidism, Ventricular septal defec... ORPHA:289
Orofaciodigital Syndrome Type 1
Hearing impairment, Open bite, Micrognathia, High palate, Tarsal synostosis, Chronic otitis media... ORPHA:2750
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Abruzzo-Erickson Syndrome
Hypospadias, Ulnar deviation of finger, Toe syndactyly, Microcornea, Short toe, Chorioretinal col... ORPHA:921
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Abnormal pupil morphology, Type 1 muscle fiber pr... OMIM:160565
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Female hypogonadism, Male hypogonadism, Cholelithiasis, Chronic muc... OMIM:240300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persis... OMIM:618342
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Congenital diaphragmatic hernia, Mi... OMIM:245600
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Incr... ORPHA:264580
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Ane... ORPHA:2325
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276575
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Patent foramen ovale, Ve... OMIM:614261
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Micrognathia, Reduced subcutaneous adipose tissue, Myop... ORPHA:280365
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-... OMIM:613573
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Protruding ear, Micro... ORPHA:85279
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of fing... ORPHA:2863
Frank-Ter Haar Syndrome
Megalocornea, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bowing of the long ... OMIM:249420
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Short finger, Abnormal heart morphology, Decreased testicular size, External... ORPHA:1867
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Macrocephaly, Anteverted nares, Everted lower lip ... ORPHA:1193
Pde4D Haploinsufficiency Syndrome
Micrognathia, Cryptorchidism, Broad phalanx, Bilateral coxa valga, Hypospadias, Short metacarpal,... ORPHA:439822
Harel-Yoon Syndrome
Distal amyotrophy, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract, Corneal opa... OMIM:617183
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Gastrointestinal inflamm... ORPHA:79405
Renpenning Syndrome
High, narrow palate, Broad columella, Abnormal rib morphology, Macrodontia, Prominent nose, Joint... ORPHA:3242
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Goiter, Bradyc... ORPHA:226313
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b... ORPHA:444072
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Otodental Syndrome
Abnormality of canine, Cataract, Abnormal dental pulp morphology, Carious teeth, Periodontitis, A... ORPHA:2791
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive, Premature ovarian insufficiency ORPHA:2278
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Cockayne Syndrome A
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Reduced subcutaneous adipose tissue, H... OMIM:216400
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276580
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Talipes equinovarus, ... ORPHA:96264
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Abnormal ... OMIM:246560
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Median pseudocleft lip, Hypoplasia ... OMIM:619648
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t... OMIM:311200
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Delayed erupt... ORPHA:289157
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Abnormal antihelix morphology, Malar flattening, Convex nasal ridge, Abnormal rib m... ORPHA:2145
Hec Syndrome
Cardiomyopathy, Endocardial fibroelastosis, Abnormal pupil morphology, Arrhythmia, Vaginal hydroc... ORPHA:2119
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Secondary amenorrhea, Premature ovarian insufficiency, Lower limb muscle weakness OMIM:620312
Fibrochondrogenesis 1
Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Megalocornea, ... OMIM:228520
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Single transverse palmar cr... OMIM:620075
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... ORPHA:91
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Sweeney-Cox Syndrome
Short distal phalanx of finger, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognat... OMIM:617746
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Atrial septal defect, Patent ductus arteri... OMIM:620005
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micro... OMIM:309520
Mucous Membrane Pemphigoid
Gingivitis, Atypical scarring of skin, Corneal opacity, Oral mucosal blisters ORPHA:46486
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Micrognathia, Limbal ... ORPHA:2363
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope... OMIM:613870
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ... OMIM:620157
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Brachydactyly, Type B1
Joint contracture of the hand, Camptodactyly, Vertebral fusion, Delayed eruption of permanent tee... OMIM:113000
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Situs inversus totalis, Hypothyroidism, Dextrocardia OMIM:617577
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Cataract, Increased variability in muscle fiber diame... OMIM:301075
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... ORPHA:1515
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, Corneal opacity, Hip dysplas... ORPHA:496790
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Malar flattening, Enamel hypoplasia, Thin vermilion border, Ma... ORPHA:139474
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Hypotension, Decreased circulating dehydroepiandroster... ORPHA:361
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Third degree atrioventricular block, Atrioventricular canal defect,... ORPHA:40366
Familial Isolated Hypoparathyroidism
Cataract, Delayed eruption of teeth, Abnormal dental enamel morphology, Myopathy, Arrhythmia, Hyp... ORPHA:2238
Kearns-Sayre Syndrome
Anterior hypopituitarism, Third degree atrioventricular block ORPHA:480
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Pulmonary edema, Cardiac arrest, Tachypnea, Bradycardia, Tachycardia, Nasa... ORPHA:70587
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Familial Osteodysplasia, Anderson Type
Depressed nasal ridge, Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, ... ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Hypospadias, Precoc... OMIM:210720
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid... OMIM:614473
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Megalo... OMIM:618729
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b... OMIM:616202
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Obesity, Primary amenorrhea, Tachycardia, Hypergonadotropic hypogonadism OMIM:619737
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... OMIM:263650
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Joint stiffness, Micrognathia, Undulate ribs, Missing... ORPHA:1801
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... OMIM:240950
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Hearing impairment ORPHA:2222
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia, Syndactyly OMIM:226700
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Telangiectasia, Neutropenia, Ca... ORPHA:221008
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... OMIM:615982
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Talip... OMIM:301056
Noonan Syndrome With Multiple Lentigines
Growth delay, Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, In... ORPHA:500
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Broad thumb, Broad hallux, Microcytic anemia, Decreased testicular size, Overlapping... ORPHA:293967
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Diastema, Supernumerary maxillary incisor, Development... OMIM:302350
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Brachydactyly, Persistent pupillary membrane, Widely-sp... ORPHA:79414
Trichothiodystrophy
Carious teeth, Cryptorchidism, Ventricular septal defect, Neutropenia, Clubbing, High, narrow pal... ORPHA:33364
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Wide nasal bridge, High, narrow palate, Bifid uvula, Conductive hearing impairment,... ORPHA:2780
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Bulging epiphyses,... OMIM:277440
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Corneal opacity ORPHA:2432
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries ORPHA:1770
Diastrophic Dysplasia
Depressed nasal bridge, Midface retrusion, Hearing impairment, Abnormal clavicle morphology, Camp... ORPHA:628
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Abnormal cortical bone morphology, Prominence of the premaxill... OMIM:614886
Pseudo-Torch Syndrome 1
Cataract, Cleft lip, Microretrognathia, Long philtrum, Umbilical hernia, Splenomegaly, Patent for... OMIM:251290
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Bilateral single transverse p... ORPHA:3310
Dystonia 23
Arrhythmia OMIM:614860
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Absent frontal si... OMIM:154780
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... ORPHA:2710
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Narrow chest, Delayed eruption of teeth, Retro... ORPHA:166272
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Hyperplasia of midface, Abnormal clavicle morphology, Abnormal dental morphology, M... ORPHA:2522
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract, Muscular dystrophy OMIM:254000
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Clinodactyly o... ORPHA:376
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Mandibular prognathia, Carious teeth, Widely space... OMIM:253010
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid regurgitation, Muscular ventricular septal defect, Cyanosi... OMIM:212093
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation... OMIM:609053
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Recurrent pneumonia, Short tibia, Sandal gap, Cryptorchidism, Short hu... OMIM:607143
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Acrocraniofacial Dysostosis
Choanal atresia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Anteverted nar... ORPHA:949
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, posteriorly rot... ORPHA:1340
Osteoglosphonic Dysplasia
Choanal atresia, Abnormal clavicle morphology, Tooth agenesis, Anteverted nares, Micrognathia, Pr... ORPHA:2645
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Finger joi... OMIM:212720
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Cryptorchidi... OMIM:175700
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Cryptorchidism, Ventricular septal defect, Neutropenia, Bilateral talipes equino... ORPHA:163956
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Retrognathia, Dec... ORPHA:485405
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Skin rash, Atr... ORPHA:290
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Carious teeth, Palmoplantar keratoderma, Keratitis, Folliculitis, Scarring alopecia of ... OMIM:612843
Premature Aging Syndrome, Penttinen Type
Thin ribs, Micrognathia, Aplasia of the nasal bone, Sensorineural hearing impairment, Flexion con... OMIM:601812
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Growth delay OMIM:619272
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility ORPHA:63442
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Malar f... OMIM:608545
Glycogen Storage Disease Iv
Portal hypertension, Failure to thrive, Cardiomyopathy, Bradycardia OMIM:232500
Distal Deletion 6P
Abnormality of the dentition, Abnormal epiphysis morphology, Downturned corners of mouth, Ectopia... ORPHA:96125
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Midface retrusion, Aplasia/Hypoplasia of the tongue, Anteverted nares,... ORPHA:1790
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis OMIM:607016
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Short thorax OMIM:601809
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Congenital diaphragmatic he... ORPHA:2092
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Sensorineural hearing impa... ORPHA:2027
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Arrhythmia, Impotence, Diabetes mellitus OMIM:606069
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Hearing abnormality, Narrow mouth, Ab... ORPHA:2412
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Hypogon... ORPHA:3220
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
White-Sutton Syndrome
Bifid uvula, Iris coloboma, Broad thumb, Downturned corners of mouth, Micrognathia, Facial hypoto... OMIM:616364
Congenital Muscular Dystrophy Due To Lmna Mutation
Limitation of joint mobility, Congestive heart failure, Joint hypermobility, Arrhythmia, Flexion ... ORPHA:157973
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Fabry Disease
Mitral regurgitation, Arrhythmia, Achalasia, Cataract, Hypertrophic cardiomyopathy, Bundle branch... ORPHA:324
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mu... ORPHA:207
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Tibial torsion, Supernumerary nipple, Overlapping toe, Inguinal hernia, Patent foramen ovale, Cry... OMIM:618653
Loeys-Dietz Syndrome 5
Decreased muscle mass, Cleft soft palate, Reduced subcutaneous adipose tissue, Mitral regurgitati... OMIM:615582
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, 3-4 toe syndactyly, Septate va... OMIM:300707
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... OMIM:540000
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Arrhythmia, Joint contracture OMIM:616516
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Narrow chest, Delayed eruption of teeth, Long philtrum,... ORPHA:50814
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Patent foramen ovale, Pulmonary a... OMIM:616028
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Khan-Khan-Katsanis Syndrome
Peters anomaly, Clinodactyly, Tricuspid regurgitation, Lymphopenia, Corneal scarring, Micrognathi... OMIM:618460
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Delayed erupti... OMIM:264700
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tooth malposition, Mandibular prognathia, Clinodactyly, Retrognathia, Tricuspid regurgitation, As... OMIM:619576
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia, Macrotia ORPHA:93950
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Infantile Systemic Hyalinosis
Severe short stature, Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Ab... ORPHA:2176
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Noonan Syndrome 2
Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v... OMIM:605275
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Pectus carinatum, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Bul... ORPHA:481152
Three M Syndrome 2
Thin ribs, Depressed nasal bridge, Pectus carinatum, Dental malocclusion, Delayed eruption of tee... OMIM:612921
Nail-Patella Syndrome
Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal interphalangeal joint... ORPHA:2614
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot... ORPHA:99147
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Moebius Syndrome
Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hypoplasia of the thumb... ORPHA:570
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo... OMIM:602196
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Bent Bone Dysplasia Syndrome 1
Low-set ears, Coronal craniosynostosis, Natal tooth, Midface retrusion, Micrognathia, Gingival ov... OMIM:614592
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Sandal gap, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weaknes... ORPHA:477817
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
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
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Developmental cataract, Pa... OMIM:617044
Fibrochondrogenesis
Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Camptodactyly of finger... ORPHA:2021
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Keratoconus, Thick lower lip vermilion, ... ORPHA:3071
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Mitten deformity... OMIM:226600
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Supernumerary nipple, Abnormal heart morphology, Astig... ORPHA:457279
Ethanolaminosis
Cardiomegaly OMIM:227150
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve pro... OMIM:180849
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Palpitation... ORPHA:91355
Cystic Echinococcosis
Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cys... ORPHA:400
Incontinentia Pigmenti
Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Cataract, Hypodontia, Orofacia... ORPHA:464
Trisomy 9P
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Bilatera... ORPHA:236
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Malar flattening, Amelogenesis imperfecta, Diaphyseal dysplasia, Metaphysea... OMIM:614727
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... ORPHA:2410
Frontometaphyseal Dysplasia 2
Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Talipes equinovarus, Bicuspi... OMIM:617137
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Astigmatism, Patent foramen ovale, Ventricular septal defect, Talipes... OMIM:614961
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Bradycardia OMIM:614498
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Open mo... OMIM:620654
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven... ORPHA:353277
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... ORPHA:1488
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased... OMIM:259440
Holoprosencephaly
Abnormal antihelix morphology, Abnormal pinna morphology, Macrotia, Choanal atresia, Depressed na... ORPHA:2162
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Terminal Osseous Dysplasia
Toe clinodactyly, Iris coloboma, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg ... OMIM:300244
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Postnatal growth retardation, Dysmenorrhea, Increased body weight, Polycy... ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, Intrauterin... ORPHA:66634
Alg12-Cdg
Biventricular hypertrophy, Overlapping fingers, Micrognathia, Cryptorchidism, Talipes equinovarus... ORPHA:79324
Cenani-Lenz Syndrome
High, narrow palate, Cataract, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elb... ORPHA:3258
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,... ORPHA:2232
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Everted lower lip vermil... ORPHA:192
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Retrognathi... OMIM:612561
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Patent ductus arteriosu... OMIM:269860
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Clinodactyly, Ankyloglossia, Micrognathia, Aplasia of the thymus, Atr... OMIM:620186
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Foot polydactyly, High palate, Short foot, Syndactyly, High, narrow p... OMIM:209900
Familial Thyroid Dyshormonogenesis
Goiter, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95716
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Ventricular ... ORPHA:354
Autoimmune Hypoparathyroidism
Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricu... ORPHA:36913
Erythrokeratodermia Variabilis
Cataract, Patchy palmoplantar hyperkeratosis, Skin rash, Brachydactyly, Abnormal testis morpholog... ORPHA:317
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Sengers Syndrome
Cataract, Hypertrophic cardiomyopathy, Premature ovarian insufficiency, Myopathy, Pulmonary arter... OMIM:212350
Malan Syndrome
Midface retrusion, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla... OMIM:614753
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnormal cardiovascular sy... ORPHA:79086
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Abnormal rib morphology ORPHA:2435
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Broad hallux, Downturned corners of mouth, Long phil... OMIM:611816
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Narrow mouth, Evert... OMIM:600920
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Bundle branch block, Tented upper lip vermilion, First degree atrioventricular block, A... ORPHA:589821
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Cyanosis, Truncus arteriosus, Ventricu... ORPHA:3426
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Decreased body weight, Hypogonadotropic hypogonadism, Developm... OMIM:619420
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Weakness of facial musculature OMIM:619967
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Dental crowding, Delayed eruption of teeth, Hearing impairment, Long philtrum, R... OMIM:616354
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... OMIM:616867
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:618454
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Talipes equinovarus, Everted lower lip vermilion, Finger joint hypermobility, Hig... OMIM:620371
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Biventricular hypertrophy, Overlapping toe, Narrow mouth, Reduced subcutaneous ad... OMIM:617402
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormal epiphysis morphology, Abnormal tendon morphology, Thick... ORPHA:579
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Pseudohypoparathyroidism ORPHA:94090
Cranioectodermal Dysplasia 2
Clinodactyly, Micrognathia, Everted lower lip vermilion, Atrial septal defect, High palate, Paten... OMIM:613610
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Osteoporosis, Bradycardia, Atrial fibrillation, Tachycardia, F... OMIM:613327
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Secundum atrial septal defect, Chronic mucocutaneous candidiasis, Lymphopeni... OMIM:614868
Chops Syndrome
High, narrow palate, Cataract, Downturned corners of mouth, Long philtrum, Aspiration pneumonia, ... OMIM:616368
Frontometaphyseal Dysplasia 1
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Sensorineural hearing impairmen... OMIM:305620
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral o... ORPHA:2635
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Usher Syndrome
Cataract, Carious teeth, Abnormal dental enamel morphology, Hypertrophic cardiomyopathy, Abnormal... ORPHA:886
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hepatosplenomegal... ORPHA:505248
Metachondromatosis
Pulmonic stenosis OMIM:156250
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Congenital Sialidosis Type 2
Cataract, Umbilical hernia, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Gingival... ORPHA:93400
Greenberg Dysplasia
Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Barrel-s... OMIM:215140
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G... OMIM:615156
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Calcinosis, Leuke... ORPHA:2909
Dysosteosclerosis
Osteopenia, Narrow chest, Natal tooth, Hearing impairment, Delayed eruption of teeth, Absent para... OMIM:224300
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Narrow chest, Delayed eruption of teeth, Hearing im... ORPHA:2484
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Ectopia pu... OMIM:608940
Raine Syndrome
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protru... OMIM:259775
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Micromelia, Delayed eruption of teeth,... OMIM:184260
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat... ORPHA:230851
Tetanus
Stiff neck, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Megalocornea, Subluxation of the small joints of the hand, Dysplasia of th... ORPHA:536471
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal cornea morphology, Umbilical hernia, Pol... ORPHA:65759
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Macrocephaly ORPHA:397973
Atelis Syndrome 1
Cataract, Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Ventricular ... OMIM:620184
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia, Arthritis, Bone cyst ORPHA:85446
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology, Hyperhidrosis ORPHA:2151
Moebius Syndrome
Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim... OMIM:157900
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Cryptorchidism, Broad philtrum, Torticollis, Hypoplasia of teeth... ORPHA:3010
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Abnormality of the dentition, Cataract, Hypoplasia of penis, Finger syndac... ORPHA:284160
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... OMIM:619322
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Short philtrum, Mandibular prognathia, Macrotia ORPHA:93945
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Tangier Disease
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... ORPHA:31150
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Microglossia, Low-se... ORPHA:1307
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Short... OMIM:620113
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Atrial flutter, Hypogonadism, Facial diplegia, First degree atrioventri... OMIM:160900
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Neutropenia, Abnormal ... ORPHA:1830
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Leopard Syndrome 1
Hypospadias, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch bloc... OMIM:151100
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Cataract, Abnormal epiphysis ... ORPHA:1458
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Narrow mouth, Open mouth, Cryptorchidism, Ventricular septal defe... OMIM:300967
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Cataract, Dental crowding, Delayed eruption of teeth... OMIM:300990
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Premature ovarian insufficiency... OMIM:610965
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Failure to thrive, Death in infancy, Bradycardia OMIM:610768
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of peni... ORPHA:1381
Short Syndrome
Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Ovarian cyst, Birth length ... OMIM:269880
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Palmar hyperhidrosis, High palate, Hand muscle atroph... OMIM:620545
Focal Dermal Hypoplasia
Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Congenital diaphragmatic hernia, Cr... OMIM:305600
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Right bundle branch block, Decreased cervical spine flexion due to c... ORPHA:254361
Coffin-Siris Syndrome 3
Depressed nasal bridge, Hearing impairment, Long philtrum, Anteverted nares, Wide mouth, Joint hy... OMIM:614608
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Pectus carinatum, Carious teeth, Hearing impairment, Short thorax, ... ORPHA:582
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:98855
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Mitten deformity, Scarring alopecia of scalp, Enam... ORPHA:251393
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia OMIM:614564
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Widely spaced teeth, Recurrent otitis media, Cryptorchidism, Microdontia, Abnormal... ORPHA:2728
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Midf... ORPHA:950
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve... OMIM:608149
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Short nose, High palate, Flexion contracture, Macrotia OMIM:218000
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami, Microtia OMIM:141300
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal... ORPHA:1120
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, T... OMIM:253200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Micrognathia, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:208085
Holoprosencephaly 9
Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, S... OMIM:610829
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Recurrent pneumonia, Sandal gap, Recurrent otitis media, Absent... OMIM:617475
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the costochondr... ORPHA:79345
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Coronal cran... OMIM:101600
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Preauricular skin tag, Hypoplasia of the frontal bone, Hypoplasia of the maxil... ORPHA:306542
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Pectus carinatum, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Macr... OMIM:619797
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defec... OMIM:608227
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Mitral regurgitation, Hip contrac... ORPHA:576
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Fibrochondrogenesis 2
Midface retrusion, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-shaped thorax, Malar... OMIM:614524
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septa... ORPHA:353281
Acrootoocular Syndrome
Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate... ORPHA:2980
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Lyme Disease
Arrhythmia, Arthritis, Atrioventricular block ORPHA:91546
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Hyperinsulinemia, ... ORPHA:324575
Gómez-López-Hernández Syndrome
Thin vermilion border, Corneal opacity ORPHA:1532
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Small hand, Clinodactyly, Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal absce... OMIM:614684
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Underdeveloped nasal alae, Long philtrum, Anteverted ... OMIM:618825
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Small hand, Narrow mouth, Atrial septal defect, High pal... ORPHA:280633
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Distal u... OMIM:619566
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hernia, Corneal opacity, Rhinitis ORPHA:93476
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Midface retrusion, Diastema, Long thorax, Overhanging n... OMIM:619142
Buerger Disease
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... ORPHA:36258
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugula... ORPHA:2302
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, In... OMIM:243150
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Small for gestational age OMIM:615917
Degcags Syndrome
Toe syndactyly, Hepatosplenomegaly, Genu valgum, Micrognathia, Protruding tongue, Pancytopenia, V... OMIM:619488
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Micrognathia, Malar flatteni... OMIM:617557
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Widely spaced teeth, Hypertrophic cardiomyopathy, Tricuspid regurgita... OMIM:617506
Drug-Induced Lupus Erythematosus
Pericardial effusion, Malar rash, Prolonged QTc interval, Pericarditis ORPHA:231111
Hall-Riggs Syndrome
Wide nasal bridge, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel... ORPHA:2107
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Tachycardia, Hypoxemia ORPHA:330012
Scalp-Ear-Nipple Syndrome
Bifid uvula, Iris coloboma, Broad thumb, Cataract, Finger syndactyly, Congestive heart failure, B... OMIM:181270
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Micrognathia, Sprengel anomaly, Microdontia of primary teet... OMIM:213980
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Open bit... ORPHA:2969
Mosaic Trisomy 9
Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal d... ORPHA:99776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Wide nasal bridge, Osteopenia, Fractured radius, Unilateral cleft lip, Thoracic hyp... OMIM:616897
Shprintzen-Goldberg Syndrome
Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Osteopenia, Conductive hearing impa... ORPHA:2462
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Diastema, Furrowed tongu... OMIM:300534
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Mitral regurgitation, Cr... ORPHA:363611
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul... OMIM:252605
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
D-Glyceric Aciduria
Micropenis, Growth delay, Failure to thrive, Bradycardia OMIM:220120
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Microcephaly, Delayed erup... OMIM:619356
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Lenz-Majewski Hyperostotic Dwarfism
Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Chordee, Diap... OMIM:151050
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryp... ORPHA:534
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Micrognathia, Narrow mouth,... ORPHA:1234
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ... OMIM:619229
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
3M Syndrome
Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Micromelia, Delay... ORPHA:2616
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Depressed nasal bridge, Narrow chest, Cleft lip, Natal tooth, Lateral clavicle hook... OMIM:617925
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria OMIM:154800
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear... OMIM:123500
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Hypertension, Mandibular prognathia ORPHA:1885
Structural Heart Defects And Renal Anomalies Syndrome
Generalized edema, Tetralogy of Fallot, Cyanosis, Death in infancy, Ventricular septal defect, Tr... OMIM:617478
Rothmund-Thomson Syndrome, Type 2
Small hand, Micrognathia, Cryptorchidism, Telangiectasia, Talipes equinovarus, High palate, Short... OMIM:268400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Aspiration pneumonia, Micrognathia, Ventricular septal defect, High palate, Hypospadi... ORPHA:444077
Femoral-Facial Syndrome
Low-set ears, Long philtrum, Micrognathia, Rib fusion, Thin upper lip vermilion, Orofacial cleft,... ORPHA:1988
Renal Nutcracker Syndrome
Varicocele, Infertility, Dysmenorrhea, Vulval varicose vein, Weight loss, Syncope, Orthostatic hy... ORPHA:71273
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Heari... ORPHA:1782
Sanjad-Sakati Syndrome
Abnormality of the dentition, Small hand, Long philtrum, Abnormal dental enamel morphology, Micro... ORPHA:2323
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement... ORPHA:221120
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Distal Deletion 12Q
Overlapping toe, Micrognathia, Large hands, Patent ductus arteriosus, High, narrow palate, Congen... ORPHA:96149
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Nablus Mask-Like Facial Syndrome
Low-set ears, Joint contracture of the hand, Secondary microcephaly, Narrow mouth, Everted lower ... OMIM:608156
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Failure to thrive, In... ORPHA:90674
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... ORPHA:633
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Opitz Gbbb Syndrome
Natal tooth, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventri... ORPHA:2745
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Postnatal growth retardation, Mitral regurg... ORPHA:75249
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Cong... OMIM:309801
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Congenital diaphragmatic he... ORPHA:373
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Gener... OMIM:208050
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Macrocephaly, Thick vermilion ... ORPHA:364028
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Bilateral conductiv... OMIM:617802
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Scarf Syndrome
Long philtrum, Umbilical hernia, Bifid scrotum, Diastasis recti, Inguinal hernia, Cryptorchidism,... ORPHA:3134
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect... ORPHA:466791
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Supernumerary nipple, Overlapping toe, Micrognathia, In... OMIM:613884
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath... ORPHA:989
Hurler Syndrome
Recurrent otitis media, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regurgitation, Her... OMIM:607014
Hypomelanosis Of Ito
Cataract, Radial deviation of finger, Clinodactyly, Thick lower lip vermilion, Hand polydactyly, ... OMIM:300337
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Low-set, posteriorly rotated ears, Micrognathia, Abnormal cortical ... ORPHA:1486
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Mitral regurgitat... OMIM:614008
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... ORPHA:980
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Abnormal pinna morphology, ... ORPHA:138
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Retrognathia, Eczematoid dermatitis, Umbil... ORPHA:352490
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Abnormality of the dentition, Secundum atrial septal defect, Skeletal muscle atrophy... OMIM:615802
Galactosialidosis
Corneal opacity ORPHA:351
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Coffin-Siris Syndrome 2
Depressed nasal bridge, Delayed eruption of teeth, Hearing impairment, Long philtrum, Thick lower... OMIM:614607
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Micrognathia, Delayed pubic b... OMIM:119600
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Carious teeth, Midface retrusion, Long philtrum, Anteverted nares, Narrow mouth, Ma... OMIM:219200
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow movement,... OMIM:261540
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Arrhythmia, Truncal obesity, Camptodactyly of finger ORPHA:2928
Pycnodysostosis
Aplastic clavicle, Carious teeth, Prominent nose, Micrognathia, Persistence of primary teeth, Del... OMIM:265800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect, Arrhythmia, At... OMIM:249270
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Abnormal EKG, Reduced... ORPHA:268
Usher Syndrome Type 1
Abnormal dental enamel morphology, Cataract, Iris hypopigmentation ORPHA:231169
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opacity, Flat ac... OMIM:271530
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abno... ORPHA:93262
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum OMIM:614800
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Cryptorchidism, Bradycardia ORPHA:565624
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... OMIM:620351
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi... ORPHA:3109
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Decreased l... ORPHA:465508
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Ectopia pupillae, Decreased response to growth hormone sti... OMIM:618223
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula... OMIM:614096
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Carious teeth, Decreased skull ossification, Microcephaly, Full cheeks, Calvarial oste... ORPHA:93324
Osteogenesis Imperfecta, Type Viii
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Barrel-shaped chest, Decreased skull ossificati... OMIM:610915
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Ovarian cyst, Precocious puberty with Sertoli cell tumor, ... OMIM:175200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hypopl... ORPHA:920
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... OMIM:230740
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Inguina... OMIM:600325
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cone-shaped epiphysis, Congenital hypothyroidism, Malar flattening, Cryptorchidism, ... OMIM:614613
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu valgum, Pulmonic stenosis, Hypoplasia of teeth, Genu varum, Coxa valga OMIM:613312
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... ORPHA:17
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat... OMIM:619339
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Bilateral... OMIM:216340
Singleton-Merten Syndrome 2
Aortic valve stenosis, Osteopenia, Arrhythmia, Osteolytic defects of the phalanges of the hand OMIM:616298
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... ORPHA:444013
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Depressed nasal bridge, Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed ... OMIM:612350
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Large earlobe, Anteverted nares, J... OMIM:305400
Brittle Cornea Syndrome 1
Congenital hip dislocation, Atypical scarring of skin, Keratoconus, Dentinogenesis imperfecta, Ab... OMIM:229200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Arterial Tortuosity Syndrome
Keratoconus, Esophagitis, Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, Avascular... ORPHA:3342
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella OMIM:620197
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient isch... ORPHA:2038
Eiken Syndrome
Delayed epiphyseal ossification, Midface retrusion, Eruption failure, Thick lower lip vermilion, ... OMIM:600002
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Microcoria, Hypoplasia o... ORPHA:93357
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Pectus carinatum, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long... OMIM:190350
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Robinow Syndrome, Autosomal Dominant 1
Low-set ears, Micrognathia, Short lingual frenulum, Short hard palate, High palate, Short nose, M... OMIM:180700
Fgfr2-Related Bent Bone Dysplasia
Low-set ears, Abnormality of the outer ear, Incomplete ossification of pubis, Osteopenia, Natal t... ORPHA:313855
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cryptorchidism, Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint... OMIM:620327
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... ORPHA:96147
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Aortic regurgitation, Hypospadias, Precocious puberty, Arthrogryposis multiplex... ORPHA:254346
Gapo Syndrome
Low-set ears, Choanal atresia, Depressed nasal bridge, Asymmetry of the thorax, Midface retrusion... ORPHA:2067
Osteoglophonic Dysplasia
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Osteopenia, Eru... OMIM:166250
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Chordee, Anterior pituitary ... OMIM:619841
Zellweger Syndrome
Cataract, Clitoral hypertrophy, Micrognathia, Epiphyseal stippling, Primary adrenal insufficiency... ORPHA:912
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Decrease... OMIM:269700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Abnormality of p... ORPHA:438216
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Broad toe... ORPHA:488632
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Mandibular prognathia, Carious teeth, Recurrent pneumonia, Widely spaced ... OMIM:253000
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Distal Duplication 18Q
Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female external genitalia m... ORPHA:1716
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Ext... OMIM:615996
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy, Myopathy ORPHA:1369
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Hearing ... ORPHA:782
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyel... ORPHA:2314
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Long philtrum, Retrognathia,... ORPHA:3447
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Short thorax, Macrocephaly, Anteverted nares, Missing ribs, Microcephaly, Abno... ORPHA:1797
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft upper lip, Addu... ORPHA:1794
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Cataract, Abnormal dental enamel morphology, C... ORPHA:96169
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Neuralgic Amyotrophy
Bifid uvula, Upper limb muscle weakness, Narrow mouth, Syndactyly, Scapular winging, Cleft palate... ORPHA:2901
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Low-set ears, Depressed nasal bridge, Midface retrusion, Delayed eruption of teeth, Underdevelope... OMIM:615866
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Generalized lipodystrophy, Dysplasia of the femoral head, Genu valgum... OMIM:619127
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mo... ORPHA:391408
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidism, Abnormal p... ORPHA:2701
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Abnormality of canine, Short thumb, Widely spaced teeth, Lower limb hypertonia, Supernumerary nip... ORPHA:477993
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interp... OMIM:607015
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Bilateral cryptorchidism, Unilateral cryptorchidism, Micrognathia, Narrow mouth, I... OMIM:613457
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis, Malar flatten... OMIM:231070
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cataract, Cryptorchidism, Ventricular septal defect OMIM:613730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Cerebrofacioarticular Syndrome
Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Tracheom... ORPHA:314679
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Blomstrand Lethal Chondrodysplasia
Low-set ears, Depressed nasal bridge, Synostosis of joints, Broad clavicles, Natal tooth, Narrow ... ORPHA:50945
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Aredyld Syndrome
Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, ... ORPHA:1133
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Iris coloboma, Finger syndactyly, Con... ORPHA:1647
Elsahy-Waters Syndrome
Low-set ears, High palate, Wide nose, Hypoplasia of the maxilla, Midface retrusion, Impacted toot... OMIM:211380
Noonan Syndrome 13
Clinodactyly, Long philtrum, Widely spaced teeth, Recurrent otitis media, Overlapping toe, Microg... OMIM:619087
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Cryptorchidism, Arrhythmia, Ambiguous genitalia, Cardiac arrest, Hypoplasia of penis ORPHA:168593
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, Corneal opacity,... ORPHA:1473
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Hypogonadism, Cryptorchidism, Testicular seminoma, Hypohidrosis, Corneal opacity ORPHA:281090
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, D... OMIM:608594
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Inflammatory abnormality of the eye, Corneal erosion ORPHA:816
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, B... ORPHA:247768
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic sinusitis, Patent foramen ovale... OMIM:620642
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Ectopia pupillae, Malar flat... OMIM:602482
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi... OMIM:210710
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Biparietal narrowi... ORPHA:228396
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Limbal stem... OMIM:149730
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Congenital hypothyroidism, Patent foramen ovale, Ventricular septal defect, ... ORPHA:209905
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... OMIM:259710
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Hypospadias, Decreased response to growth hormone ... OMIM:220210
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Bifid uvula, Cataract, Dental malocclusion, Band keratopathy, Sel... ORPHA:2959
Cole-Carpenter Syndrome 2
Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteopenia,... OMIM:616294
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... ORPHA:166024
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal hemidiaphragm morphology, Apnea, Cyanosis, Tachypnea, Dex... ORPHA:2257
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Postnatal growth retardation, Azoospermi... OMIM:210900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Narrow mouth, Vent... OMIM:616268
Meier-Gorlin Syndrome 1
Low-set ears, Thin ribs, Joint contracture of the hand, Atresia of the external auditory canal, H... OMIM:224690
Cockayne Syndrome
Lentiglobus, Carious teeth, Reduced subcutaneous adipose tissue, Cryptorchidism, Delayed eruption... ORPHA:191
Myopathy, Myofibrillar, 2
Cataract, Muscular dystrophy, Skeletal muscle autophagosome accumulation, Quadriceps muscle weakn... OMIM:608810
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia ORPHA:91359
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry... OMIM:256520
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital sensorineural ... ORPHA:73272
Contractural Arachnodactyly, Congenital
Micrognathia, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Arachnodactyly, Talip... OMIM:121050
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal lip morphology, Aplasia/Hypoplasia of ... ORPHA:2759
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Catara... ORPHA:3378
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre... OMIM:252100
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Abnormal tendon morphology, Decreased testicular size, Infertility, Abnormal sperm head... ORPHA:320391
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Natal tooth, Dental crowding... OMIM:145420
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cyanosis, Overriding aorta, Double outlet right ventricle, Atrial septal def... ORPHA:3304
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Neurooculorenal Syndrome
Ectopic posterior pituitary, Short 1st metacarpal, Central hypothyroidism, Tetralogy of Fallot wi... OMIM:620305
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Micrognathia, Narrow mouth, Ante... ORPHA:96334
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... OMIM:613239
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Cataract, Abnormal pelvic girdle bone morphology, Failure of eruption of pe... OMIM:272460
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Dental crowding, Decreased testicular size, Anir... OMIM:612469
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Hypohidrosis, Orthostatic hypotension, Hyperhidr... ORPHA:1764
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Ventricul... OMIM:618142
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Micrognathia, Narrow mouth, High palate, Pierre-Robin sequence, Posterior rib gap, ... OMIM:611209
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Abnormal cardiovascular system physiology, ... ORPHA:168569
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear OMIM:167730
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Hepatosplenomegaly, Weight l... ORPHA:85450
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Short toe, Widely spaced toes, Umbilical hernia, Tricuspid regurgitation, ... ORPHA:404443
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Cyanosis, Tachypnea, Pericardial effusion, Hypertension, Hypo... ORPHA:79126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Chromosome 2Q37 Deletion Syndrome
Short toe, Eczematoid dermatitis, Type E brachydactyly, Malar flattening, Arrhythmia, Hypothyroid... OMIM:600430
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Abnormal lip morphology, Hepatitis, Abnormal dental enamel morphology... ORPHA:1334
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai... ORPHA:2554
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of a... OMIM:615352
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Eec Syndrome
Toe syndactyly, Carious teeth, Finger syndactyly, Xerostomia, Aplasia/Hypoplasia of the thumb, In... ORPHA:1896
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Peters anomaly, Annular pancreas, Furrowed tongue, Micrognathia, Cryptorchidism, Paten... OMIM:616975
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Patent foramen ovale OMIM:614582
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Bradycardia, Small for gestational age ORPHA:391673
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Atrophoderma Vermiculata
Heart block ORPHA:79100
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Hearing impairment, Micrognathia, Short nose, Midface retrusion, Downturned corners... OMIM:268310
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic hypogonadism, ... ORPHA:251066
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage ORPHA:543
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Ohdo Syndrome
Small scrotum, Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Cryptorchidism, Sm... OMIM:249620
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Pleural effusion, Hemothorax, Cyanosis, P... ORPHA:199241
Emanuel Syndrome
Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, High p... ORPHA:96170
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Obesity, Cryptorchidism OMIM:601794
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Cardiomyopathy ORPHA:67048
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Hypohidrosis, Conical primary incisor, Corneal opacity OMIM:602400
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Micrognathia, Displacement of the urethral meatus, Orofacial c... ORPHA:1556
Chromosome 9P Deletion Syndrome
Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal def... OMIM:158170
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Midface retrusion, Clef... ORPHA:819
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prola... OMIM:609942
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia, Submucous cleft hard palate, Crypto... ORPHA:250999
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... OMIM:208250
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Type E brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal OMIM:112410
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Tachycardia, ... ORPHA:99827
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Mitral re... ORPHA:2848
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Widely spaced teeth, Umbilical hernia, Abnormal heart valve morphology, Recurrent... OMIM:253220
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar... ORPHA:1194
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi... ORPHA:1842
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Downturned corners of mouth, Abnormal mandible morphology, Long ph... ORPHA:2215
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, ... OMIM:212750
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Long philtrum, Thick lower lip vermilion, Myopic astigmatism, Astigmatism,... OMIM:152950
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... ORPHA:3099
Duane Retraction Syndrome
Microcornea, Skeletal muscle atrophy, Central heterochromia, Preaxial hand polydactyly, Chorioret... ORPHA:233
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... ORPHA:423461
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... ORPHA:221016
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Broad clavicles, Dental malocclusio... OMIM:269500
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Vaginal hernia ORPHA:3173
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadias... OMIM:265380
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Tracheomalacia, Short t... OMIM:613803
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of all fingers, Everted lo... OMIM:218330
Emanuel Syndrome
Aortic valve stenosis, Recurrent otitis media, Micrognathia, Congenital diaphragmatic hernia, Cry... OMIM:609029
Saethre-Chotzen Syndrome
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, H... ORPHA:794
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... OMIM:613834
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Recurrent... ORPHA:99772
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Thyroiditis, Growth delay, Failure to thrive, Pulmonary venous... ORPHA:79259
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... ORPHA:139471
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... ORPHA:435638
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx... OMIM:620193
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Micrognathia, Abnormal scrotum morph... ORPHA:397590
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Midface retrusion, Abnormal palate morphology, Convex nasal ridge, Man... ORPHA:1540
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Micrognathia, Abnormal mitral v... ORPHA:7
Yao Syndrome
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Or... OMIM:617321
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Weight loss, Bradycardia ORPHA:221098
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Hypoplasia of the zygomatic ... OMIM:618500
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Hypoplastic right heart, Retrognathia, Congestive heart failure, Hypertrophic cardiomyo... OMIM:617403
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Abnormal external nose morphology, Hypoplasia of the zygomatic bone, Solitary media... ORPHA:556955
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyly, Metaphyseal widening, Shor... OMIM:618961
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Conductive hearing impairment, Narrow nasal... ORPHA:3082
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... ORPHA:110
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Abnormality of the dentition, Wide nasal bridge, Micrognathia, Joint hypermobility, Th... OMIM:617952
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Narrow mouth, Inguinal hernia, Abnormal thumb m... ORPHA:2719
Marfan Syndrome
Aortic regurgitation, Ectopia lentis, Skeletal muscle atrophy, Congestive heart failure, Hypoplas... ORPHA:558
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Growth delay, Hypopituitarism, Decreased response to growth hormone ... ORPHA:226307
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Decreased response to growth... ORPHA:506358
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:90673
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Prominent nasal bridge... ORPHA:3068
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Bilateral talipe... OMIM:306955
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Uveitis, Splenomegaly, Infectious encephalitis, Myositi... ORPHA:3452
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Reduced subcutaneous adipose tissue, C... OMIM:133540
Oculofaciocardiodental Syndrome
Bifid nasal tip, Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Hear... ORPHA:2712
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth, Hypohidrosis ORPHA:248
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Hurler Syndrome
Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of finger, Cardiomyop... ORPHA:93473
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Mandibular prognathia, Platelet anisocytosis, Umbilical hernia, Overlapping toe, Thin upper lip v... OMIM:620475
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia OMIM:617397
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, High palate, Pierre-Robin... OMIM:300373
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Tooth malposition, Broad ribs, Abnormal dental... OMIM:277600
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m... OMIM:617865
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea... OMIM:164900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Micr... OMIM:619503
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Char Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hearing impairment, Agenesis of permanent teeth, P... ORPHA:46627
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx... OMIM:620662
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congenital dia... ORPHA:818
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrop... ORPHA:101028
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Overlapping fing... ORPHA:464738
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr... ORPHA:1406
Osteogenesis Imperfecta, Type X
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Narrow chest, Midface retrusion, Thoracic hypop... OMIM:613848
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Micrognathi... ORPHA:3320
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent... OMIM:608328
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Branchioskeletogenital Syndrome
Carious teeth, Thoracolumbar kyphoscoliosis, Abnormal midface morphology, Hypoplasia of the maxil... ORPHA:1299
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal dental enamel morphology, Macrodontia, Congenital muscular torticolli... ORPHA:2916
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Keratitis, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion ... OMIM:272430
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Bradycardia, Retinal he... OMIM:614653
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Midface retrusion, Underdeveloped nasal alae, Cleft ... OMIM:229400
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Midface retrusion, Thoracic hypoplasia, Advanced tarsal ossif... OMIM:269250
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Pulmonary arterial hypertension OMIM:265120
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Abnormal oral mucosa morphology, Pneumonia, Abnormal cornea morpho... ORPHA:79404
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricula... OMIM:617063
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Microg... ORPHA:740
Recon Progeroid Syndrome
Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ... OMIM:620370
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h... OMIM:109120
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Cole-Carpenter Syndrome
Midface retrusion, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Jo... ORPHA:2050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Microcephaly, Delayed eruption of teeth OMIM:615905
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Mietens Syndrome
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, El... ORPHA:2557
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Menometrorrhagia, Cardio... ORPHA:79430
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Cataract, Toe syndactyly, Microcornea, Finger synda... ORPHA:217346
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Retrognathia, Decreased fertility, Ventricular septal defect, Keratoconjunctivitis s... OMIM:234050
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Sensorineural hearing impairment, R... ORPHA:904
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Retrognathia, Micrognathia, Decreased calvarial ossification, Craniosynostosis, Arthro... OMIM:618265
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Noonan Syndrome 4
Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Cubi... OMIM:610733
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Fryns Syndrome
Short distal phalanx of finger, Hypospadias, Long philtrum, Tetralogy of Fallot, Micrognathia, Te... ORPHA:2059
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... ORPHA:3152
Heart-Hand Syndrome Type 2
Joint stiffness, Arrhythmia, Cryptorchidism ORPHA:1350
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Abnormality of the sph... ORPHA:363700
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive hea... ORPHA:2095
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Relative macrocephaly, Delayed eruption of teeth OMIM:614450
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple ren... ORPHA:2869
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Iris coloboma, S... OMIM:610023
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Cortisone Reductase Deficiency 1
Acne, Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Hypoplasia of the iris, Anhidrosis, Splenomegaly, Myopathy, Amelogenesis imperfecta, T... ORPHA:169090
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Clitoral hypertrophy, Recurrent pneumonia, Retrognathia, Furrowed tongue, ... OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... ORPHA:368
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Congen... ORPHA:261279
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased circulating ost... ORPHA:330015
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypopl... OMIM:607626
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Depressed nasal ridge, Hypodontia, Delayed eruption of teeth ORPHA:1816
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hypodontia, Everte... OMIM:601499
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Recurrent pneumonia, Sandal gap, Long philtrum, ... OMIM:613177
Sulfite Oxidase Deficiency, Isolated
Microcephaly, Delayed eruption of teeth, Macrotia OMIM:272300
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Hypertension, Brachydactyly ORPHA:1276
Isolated Atp Synthase Deficiency
Cataract, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia, Hypothyr... ORPHA:254913
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Limited elbow extension and supination, Cr... ORPHA:401935
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Chime Syndrome
Acute leukemia, Ventricular septal defect, Short foot, Hip dislocation, Aplasia/Hypoplasia of the... ORPHA:3474
Breath-Holding Spells
Cyanosis OMIM:607578
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Short foot, Upper limb undergrowth ORPHA:166277
Scarf Syndrome
Long philtrum, Umbilical hernia, Bifid scrotum, Diastasis recti, Inguinal hernia, Cryptorchidism,... OMIM:312830
Eem Syndrome
Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab... ORPHA:1897
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Genu valgum, Narrow mouth, Brachydactyly, Short phalanx of finger... OMIM:132450
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Cri-Du-Chat Syndrome
Bifid uvula, Cataract, Microretrognathia, Downturned corners of mouth, Thick lower lip vermilion,... OMIM:123450
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Palmoplantar keratoderma, Delayed eruption of teeth, Enamel hypoplasia OMIM:616029
Bacterial Toxic-Shock Syndrome
Cellulitis, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Myo... ORPHA:36234
Doors Syndrome
Aspiration pneumonia, Short lingual frenulum, Open mouth, Adrenal hyperplasia, Aplasia/Hypoplasia... ORPHA:79500
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High pala... OMIM:607872
Rett Syndrome
Short foot, Prolonged QTc interval, Abnormal T-wave OMIM:312750
Adams-Oliver Syndrome 6
Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Brachydactyly, Syndactyly OMIM:616589
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Narrow chest, Microretrognathia, Natal tooth, Cleft lip, Unicoronal syn... OMIM:616300
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Supraumbilical raphe OMIM:606893
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Hartsfield Syndrome
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Median cleft upper lip, Microcepha... OMIM:615465
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Displace... ORPHA:2377
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Abnormal denta... ORPHA:2251
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Choanal atresia, Narrow chest, Cleft lip, Hearing impairment, Delayed eruption... OMIM:619148
Neuroocular Syndrome 1
Ankyloglossia, Torus palatinus, Lens coloboma, Brushfield spots, Iris coloboma, Hyperextensibilit... OMIM:619539
Hallermann-Streiff Syndrome
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Hi... OMIM:234100
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Cardiomyopathy, Bundle bra... ORPHA:93672
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, V... ORPHA:2256
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Depressed nasal ridge, Thin ribs, 11 pairs of ribs, Decreased skull ossification, M... OMIM:300863
Scrub Typhus
Hypotension, Splenomegaly, Skin rash, Infectious encephalitis, Hyperhidrosis, Myocarditis, Anteri... ORPHA:83317
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Micrognathia, Na... ORPHA:90652
Neurodevelopmental Disorder With Spasticity And Poor Growth
High, narrow palate, Narrow mouth, Tented upper lip vermilion, Knee flexion contracture, Single t... OMIM:618076
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval ORPHA:71212
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Failure to thrive OMIM:610131
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis... ORPHA:2908
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Palmoplantar blistering, Atrophic scars, Vaginal stricture, Oral mucosal blisters,... ORPHA:79409
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Microretrognathia, Conductive hearing impairment, Hearing impairment, T... OMIM:616229
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... ORPHA:1263
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Carious teeth, Skeletal muscle atrophy, Subdural hemorrhage, ... ORPHA:90324
Walker-Warburg Syndrome
Bifid uvula, Cataract, Microcornea, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... ORPHA:899
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... ORPHA:70591
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Monosomy 5P
Small hand, Microretrognathia, Finger syndactyly, Inguinal hernia, High palate ORPHA:281
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Midface retrusion, Anteverted nares, Persistence of primary teet... OMIM:610253
Wrinkly Skin Syndrome
Low-set ears, Wide nasal bridge, Osteopenia, Carious teeth, Microretrognathia, Delayed eruption o... OMIM:278250
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm, Micrognat... ORPHA:1052
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture OMIM:118650
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Acrocardiofacial Syndrome
Hypospadias, Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralo... ORPHA:2008
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Pulmonary edema... ORPHA:90068
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:1692
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Contracture of the ... OMIM:300166
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Telangiectasia of the skin, Hydrocele testis ORPHA:276280
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Bell-shaped thorax, Anterior rib cupping, High palate, Short nose, Depressed nasal ... OMIM:271665
Achondrogenesis, Type Ia
Low-set ears, Depressed nasal bridge, Hypoplastic nasal bridge, Unossified vertebral bodies, Hypo... OMIM:200600
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Solitary median maxil... ORPHA:952
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Calvarial hyperostosis OMIM:112350
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... ORPHA:31826
Apert Syndrome
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Conductive hearing impairment... ORPHA:87
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Micrognathia, Congenital diaphragmatic hernia, Mitral regurgitation, Mitral... ORPHA:2556
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hyphema, Ectopia pupillae, Recurrent otitis media, Long... ORPHA:261552
Zttk Syndrome
Low-set ears, Narrow mouth, High palate, Short nose, Hypoplasia of the maxilla, Midface retrusion... OMIM:617140
Sotos Syndrome
Low-set ears, Depressed nasal bridge, Mandibular prognathia, Broad nasal tip, Conductive hearing ... OMIM:117550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Rhizomelia, Microcornea, Long philtrum, Ectopia pupillae, 2-3 toe s... OMIM:615877
Kury-Isidor Syndrome
Finger syndactyly, Long philtrum, Widely spaced teeth, Recurrent otitis media, Tented upper lip v... OMIM:619762
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ... OMIM:250220
Charcot-Marie-Tooth Disease Type 1E
Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hyporeflexia of u... ORPHA:90658
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Arachnodact... ORPHA:567
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon... OMIM:601559
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
De Barsy Syndrome
Congenital hip dislocation, Cataract, Delayed eruption of teeth, Decreased muscle mass, Umbilical... ORPHA:2962
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Ventr... ORPHA:251014
Developmental And Epileptic Encephalopathy 41
Microcephaly, Flexion contracture, Delayed eruption of teeth OMIM:617105
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Trun... OMIM:615415
Mahvash Disease
Palpitations OMIM:619290
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Single transverse palmar crease... OMIM:614701
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Congestive heart failure, Episclerit... ORPHA:727
Meier-Gorlin Syndrome 4
Low-set ears, Hypoplasia of the maxilla, Lateral clavicle hook, Thick lower lip vermilion, Microg... OMIM:613804
Stickler Syndrome Type 2
Cataract, Cleft palate, Corneal opacity ORPHA:90654
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Kbg Syndrome
Finger clinodactyly, Long philtrum, Congenital malformation of the left heart, Macrodontia, Crypt... ORPHA:2332
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Wide mouth, Cryptorchidism, Cubitus valgus, Arrhythmia, Atrial septa... OMIM:611553
X-Linked Hypohidrotic Ectodermal Dysplasia
Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Evert... ORPHA:181
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventricular cavity, Thickened ... ORPHA:85438
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Growth delay, Abnormality of th... ORPHA:300298
3Q29 Microduplication Syndrome
Abnormality of the dentition, Cataract, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal ... ORPHA:251038
Kabuki Syndrome 2
Low-set ears, Broad nasal tip, Cupped ear, Hearing impairment, Natal tooth, Dental malocclusion, ... OMIM:300867
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Clinodactyly, Downturned corners of mouth, Cardiomyopathy, Micrognathia, Cryptorchid... OMIM:217980
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Immunodeficiency 10
Recurrent pneumonia, Hypoplasia of the iris, Recurrent otitis media, Splenomegaly, Autoimmune hem... OMIM:612783
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Smooth tongue, Atrophic scars, Distal lower limb amyotrophy, Oral mucos... ORPHA:79396
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ectopia pupillae, Micrognathia, Cryptorchidism, Ventricular septal defect,... OMIM:194190
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic regurgitation, Aortic dissection, Camptodactyly of finger, Abnormal h... ORPHA:284984
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Postaxial foot polydactyly, Astigmatism, Polydactyly, Postaxial... OMIM:615986
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... ORPHA:81
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Muscular ventricular septal defect, Decr... OMIM:157800
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic... OMIM:300887
Craniofrontonasal Dysplasia
Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Congenital ... ORPHA:1520
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Recurrent pneumonia, Atopic dermatitis, Eczematoid dermatitis, Cuta... OMIM:618282
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Radioulnar s... ORPHA:798
8P Inverted Duplication/Deletion Syndrome
Wide nasal bridge, High, narrow palate, Preauricular skin tag, Retrognathia, Long philtrum, Contr... ORPHA:96092
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... OMIM:122880
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Tachycardia ORPHA:79264
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Micrognathia, Malar flatten... OMIM:108721
Stickler Syndrome
Hearing impairment, Open bite, Micrognathia, Sensorineural hearing impairment, Short hard palate,... ORPHA:828
Dextrocardia
Congenital hip dislocation, T-wave inversion, Abnormal EKG ORPHA:1666
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, Hypodontia, Sc... ORPHA:59303
Pyknoachondrogenesis
Low-set ears, Depressed nasal ridge, Craniofacial hyperostosis, Abnormal intramembranous ossifica... ORPHA:3003
ERI1-related disease
Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Tricuspid regurgitation, Clinoda... OMIM:608739
7Q31 Microdeletion Syndrome
Low-set ears, Hypoplasia of the maxilla, Long philtrum, Childhood onset sensorineural hearing imp... ORPHA:251061
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Joint contracture of the hand, Clitoral hypertrophy, Abnormal heart morphology, Microgn... OMIM:214110
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Hearing impair... ORPHA:2588
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, O... OMIM:244300
Robinow Syndrome
Tooth malposition, Small scrotum, Ankyloglossia, Micrognathia, Marked delay in eruption of perman... ORPHA:97360
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial head dislocati... OMIM:610967
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Hypospadias, Abnormality of frontal sinus, Short thumb, Overlapping toe, Mic... ORPHA:436003
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, C... ORPHA:391487
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... ORPHA:3210
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Limited elbow extension, Inguinal hernia, Cryptorchidism... OMIM:180870
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Low-set ears, Depressed nasal bridge, Natal tooth, Micrognathia, Sagittal craniosynostosis OMIM:616901
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis... OMIM:618397
Silver-Russell Syndrome 3
Small hand, Retrognathia, Elbow contracture, Unilateral cryptorchidism, Ambiguous genitalia, Peno... OMIM:616489
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, Elbow ankylosis, Abnormal fing... ORPHA:2658
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Osteopenia, Narrow chest, Long philtrum, Hearing abnormality, Decrease... OMIM:610682
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... OMIM:609441
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition, Hypertension ORPHA:757
Wagr Syndrome
Cataract, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of the urethral m... ORPHA:893
Dubowitz Syndrome
Depressed nasal bridge, Abnormality of the dentition, Hearing impairment, Delayed eruption of tee... ORPHA:235
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Pathologic fracture, Intermittent claudication, Rayna... OMIM:259900
Triploidy
Iris coloboma, Cataract, Hypospadias, Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidi... ORPHA:3376
Vertebral Hypersegmentation And Orofacial Anomalies
Midface retrusion, Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard pal... OMIM:619122
Ichthyosis, X-Linked
Palmoplantar keratoderma, Cryptorchidism, Hypohidrosis, Testicular neoplasm, Palmar hyperlinearit... OMIM:308100
Mosaic Monosomy X
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... ORPHA:99228
Monosomy X
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... ORPHA:99413
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... ORPHA:244
Kleefstra Syndrome
Limitation of joint mobility, Delayed eruption of teeth, Hearing impairment, Downturned corners o... ORPHA:261494
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nippl... OMIM:601803
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Finger syndactyl... ORPHA:2994
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Microdontia, A... ORPHA:231178
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pineal cyst, Secondary amenorrhea, Pulmonic stenosis ORPHA:529962
Microphthalmia, Lenz Type
Abnormality of the dentition, Preauricular skin tag, Abnormal clavicle morphology, Delayed erupti... ORPHA:568
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Talipes equin... OMIM:610168
Lymphatic Malformation 13
Long philtrum, Mitral regurgitation, Patent foramen ovale, Smooth philtrum, Pulmonary arterial hy... OMIM:620244
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hypoplastic nipples, Hallux valgus, Hypoh... OMIM:603543
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Iris coloboma, Microcornea, Microglossia, Camptodactyly... ORPHA:2839
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect OMIM:277740
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hypotension with com... ORPHA:85443
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Hearing impairment, Underdeveloped nasal alae, Cleft mandibl... ORPHA:364577
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Cerebral ischemia, Hand polydactyly, Arrhythmia, Telangiectasi... ORPHA:60040
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T... OMIM:620250
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Irregular carpal bones, Inguinal... OMIM:252600
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Conductive hearing impairment, Synostosis of carpal bones, Selective tooth age... OMIM:311300
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Decreased muscle mass, Camptodactyly of finger, Ulnar de... OMIM:114300
Isolated Exencephaly
Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo... ORPHA:563612
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Arrhy... ORPHA:3386
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Taurodontia, Pulp calcification, Enamel hypoplasia, Conjunctival whitish sal... OMIM:211900
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Zechi-Ceide Syndrome
Short distal phalanx of finger, Cleft lip, Sandal gap, Downturned corners of mouth, Abnormal hear... ORPHA:217017
Hereditary Coproporphyria
Tachycardia, Proximal muscle weakness in upper limbs ORPHA:79273
Sialidosis Type 2
Skeletal muscle atrophy, Umbilical hernia, Splenomegaly, Inguinal hernia, Corneal opacity, Flexio... ORPHA:87876
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Cataract, Downturned corners of mouth, Long phi... OMIM:220500
Proximal Spinal Muscular Atrophy
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Bradycardia, Fl... ORPHA:70
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Bowing of the arm, Bowing of the legs OMIM:301014
Encephalitis Lethargica
Stiff neck, Bradycardia ORPHA:83600
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Cranial hyperostosis, Oligodontia, Hypodontia, Relative macrocephaly OMIM:601345
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Elbow dislocation, Abnormal dental enamel morphology, Abnormal hip bone morphology, Bilateral sin... ORPHA:3236
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Failure to thrive, Wolff-Parkinso... OMIM:618378
Monosomy 9Q22.3
Low-set ears, Delayed eruption of teeth, Long philtrum, Macrocephaly, Narrow mouth, Joint hypermo... ORPHA:77301
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Ing... ORPHA:217085
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Short thumb, Velopharyngeal insufficiency, Tetralogy of Fallot, Micr... OMIM:619325
Hallermann-Streiff Syndrome
High, narrow palate, Choanal atresia, Rib exostoses, Abnormality of the dentition, Natal tooth, T... ORPHA:2108
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Aspiration pneumonia, Genu valgum, Abnormal mitral valve morphology, C... ORPHA:581
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... OMIM:610706
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Long philtrum, Recurrent otitis media, Micrognathia, Oligodontia, Smooth philtrum, Cor... OMIM:602562
Infantile Refsum Disease
Cataract, Failure to thrive, Cardiomyopathy, Arrhythmia, Facial palsy ORPHA:772
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Long philtrum, Gingival overgrowth, Protruding tongue, Patent foramen ovale OMIM:619179
Tularemia
Pneumonia, Cutaneous abscess, Leukocytosis, Otitis media, Oral ulcer, Skin rash, Conjunctival hyp... ORPHA:3392
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormal dental en... ORPHA:1005
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Primary adrenal insuff... OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome OMIM:618234
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnormal thumb morphology... ORPHA:1825
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa... ORPHA:1071
Peters Plus Syndrome
Toe syndactyly, Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Short foot, Iris coloboma... ORPHA:709
Systemic Sclerosis
Intestinal bleeding, Finger swelling, Narrow mouth, Telangiectasia, Glomerulonephritis, Recurrent... ORPHA:90291
Apert Syndrome
Delayed epiphyseal ossification, Acne, Broad thumb, Synostosis of carpal bones, Finger syndactyly... OMIM:101200
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Bilateral cryptorchidism, Hip d... ORPHA:466722
Ring Chromosome 22 Syndrome
Azoospermia, Growth delay ORPHA:1446
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Arthrogryposis mult... OMIM:226730
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Aymé-Gripp Syndrome
Reduced arm span, Megalocornea, Narrow mouth, Congenital diaphragmatic hernia, Cryptorchidism, Ra... ORPHA:1272
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Open mouth, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali... OMIM:301039
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Kenny-Caffey Syndrome, Type 1
Thin ribs, Carious teeth, Decreased skull ossification, Calvarial osteosclerosis, Long clavicles,... OMIM:244460
Legionnaires Disease
Cellulitis, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Arrhythmi... ORPHA:549
Pituitary Apoplexy
Hypotension, Mydriasis, Impotence, Increased circulating cortisol level, Increased circulating pr... ORPHA:95613
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Ing... ORPHA:217093
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Micrognathia, Cleft soft palate, Bell-shaped thorax, Short hard pala... OMIM:117650
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Abnormal atrioventricular conduction,... ORPHA:732
Alzahrani-Kuwahara Syndrome
Cataract, Coronary sinus enlargement, Eczematoid dermatitis, Long philtrum, Micrognathia, Astigma... OMIM:619268
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hyperinsulinemia, Premature ovarian insufficiency,... ORPHA:79237
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Pneumonia, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Mac... ORPHA:309288
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Cardiomyopathy, Increased circulating prolactin concen... OMIM:102200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG ORPHA:480864
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Muscular dystrophy, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Reduced ... ORPHA:370959
White Forelock With Malformations
Low-set, posteriorly rotated ears, Abnormal palate morphology, Joint hypermobility, Deep philtrum... ORPHA:2475
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis, Edema ORPHA:3165
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Or... ORPHA:32960
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hernia, Smooth philtrum, Ventricular septal defect, Leukemia, Syndactyly OMIM:602501
Corneodermatoosseous Syndrome
Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis, Abnormali... ORPHA:3194
Dk1-Cdg
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I... ORPHA:91131
Neonatal Marfan Syndrome
High, narrow palate, Abnormal cardiac ventricle morphology, Ectopia lentis, Megalocornea, Tricusp... ORPHA:284979
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Conductive hearing impairment... ORPHA:3238
Bloom Syndrome
Growth delay, Azoospermia, Intrauterine growth retardation, Telangiectasia, Severe postnatal grow... ORPHA:125
Trisomy X
Precocious puberty, Premature ovarian insufficiency, Ventricular septal defect, Atrial septal def... ORPHA:3375
Behçet Disease
Mitral regurgitation, Oral ulcer, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal ... ORPHA:117
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Broad thumb, Toe syndactyly, Retrognathia, Long philtrum, Overlapping toe, Cryptorchidism, Ventri... ORPHA:505237
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Thick vermilion border, Open mouth, Exaggerated cupid's bow, Hypertension,... OMIM:300896
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Tricuspid regurgitation, Micr... ORPHA:73223
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op... ORPHA:1507
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Abnormal dental morphology, Corneal opacity, Abnormal finger morphology, Abno... OMIM:163200
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Bilateral cryptorchidism, Hypoplasia of the capital femoral epiphysis,... OMIM:242900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Eczematoid dermatit... OMIM:619721
Amelocerebrohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... ORPHA:1946
Morquio Syndrome C
Corneal opacity OMIM:252300
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male urethral meatus stenos... OMIM:613406
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ... OMIM:608612
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Retrognathia, Increased circulating prolactin concentration, Aspiration pneum... ORPHA:438213
Larsen Syndrome
Elbow dislocation, Cleft upper lip, Accessory carpal bones, Malar flattening, Cryptorchidism, Ven... OMIM:150250
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Microcornea, Abnormally prominent line of Schwalbe, Megalocornea, Ecto... OMIM:180500
Restrictive Dermopathy 1
Low-set ears, Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankyl... OMIM:275210
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Hypertrop... OMIM:619121
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Ovarian cyst OMIM:618188
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Wiedemann-Steiner Syndrome
Short 5th finger, Small hand, Short toe, Long philtrum, Recurrent otitis media, Long hallux, Cont... OMIM:605130
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Depressed nasal ridge, Thin ribs, Cleft upper lip, Micrognathia, Increased suscepti... OMIM:312150
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Systemic Capillary Leak Syndrome
Hypotension, Leukocytosis, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Ulnar-Mammary Syndrome
Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, Decreased fertility,... ORPHA:3138
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Joint hypermobility, Sinus bradycardia OMIM:261990
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Ellis-Van Creveld Syndrome
Common atrium, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption ... OMIM:225500
Scheie Syndrome
Aortic regurgitation, Thick vermilion border, Splenomegaly, Everted lower lip vermilion, Corneal ... ORPHA:93474
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Abnor... ORPHA:903
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Anemia, Oligoa... ORPHA:31205
Noonan Syndrome
Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnorma... ORPHA:648
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Mitral valve prolapse, Bowin... ORPHA:666
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... OMIM:614527
Ablepharon-Macrostomia Syndrome
Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplasia of t... OMIM:200110
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Usher Syndrome, Type Ig
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment OMIM:606943
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Barber-Say Syndrome
Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, High palate, Wide n... OMIM:209885
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Retrognathia, Bifid scrotum, Overlapping toe, Micrognathia, Cutaneous finger synda... OMIM:613026
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... OMIM:608670
Campomelic Dysplasia
Low-set ears, Thin ribs, Delayed epiphyseal ossification, Carious teeth, Hypoplastic scapulae, He... OMIM:114290
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
Genitopatellar Syndrome
Low-set ears, Delayed eruption of teeth, Hearing impairment, Long philtrum, Prominent nose, Micro... ORPHA:85201
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long philtrum, Short ... OMIM:190351
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Arthritis ORPHA:375
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Depressed nasal bridge, Bifid uvula, Natal tooth, Atresia of the external audito... OMIM:123790
Al-Gazali Syndrome
Broad distal phalanx of finger, Recurrent pneumonia, Micrognathia, Wrist flexion contracture, Bow... OMIM:609465
Wolfram Syndrome 1
Cataract, Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
X Small Rings
Toe syndactyly, Long philtrum, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, P... ORPHA:96201
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Tetralogy of Fallot, Astigmatism, Cryptorchidism, Ventricular septal defect, Short c... OMIM:617159
Limb-Mammary Syndrome
Toe syndactyly, Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis,... ORPHA:69085
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Thin ribs, Micrognathia, Hip contracture, High palate, Short nose, Thoracic hypopla... OMIM:620369
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Xerostomia, Finger syndactyly, Open bite, Ankyloglossia, Narrow mouth, Pustule... ORPHA:2907
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Congenital diaphragmatic her... OMIM:265000
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Limited elbow movement, Ventricular sep... OMIM:610759
Distal Duplication 5Q
Carious teeth, Absent thumb, Eczematoid dermatitis, Long philtrum, Chorioretinal coloboma, Microg... ORPHA:96097
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
Mosaic Trisomy 8
Narrow chest, Broad nasal tip, Limitation of joint mobility, Hearing impairment, Arthrogryposis m... ORPHA:96061
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Sho... OMIM:614230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... OMIM:618986
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Sandal gap, Thick lower lip vermilion, Arachnodactyly, Thin upper... OMIM:616938
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Right bundle branch block, Joint hypermobility OMIM:618590
Developmental And Epileptic Encephalopathy 100
Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Sing... OMIM:619777
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Megalocornea, Progressive alveolar rid... OMIM:252500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Decreased muscle mass, Micrognathia, Narrow mouth, Cryptorchidism, Esophagitis, Hyp... ORPHA:96182
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Epididym... ORPHA:1304
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Dentinogenesis imperfecta, Pseudoarthrosis, Slender long bone OMIM:619795
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Cardiomyopathy, Amenorrhea OMIM:604250
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Microretrognathia, Short thor... ORPHA:261344
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th... OMIM:620609
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Co... OMIM:614188
Hypophosphatasia
Abnormality of the dentition, Narrow chest, Abnormal rib morphology, Craniosynostosis, Recurrent ... ORPHA:436
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Mi... ORPHA:1765
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Nuclear cataract, Skeletal muscle atrop... OMIM:601701
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Hypothyroidism, Congenital, Nongoitrous, 5
Congenital hypothyroidism, Mitral regurgitation, Decreased circulating free T4 concentration, Dec... OMIM:225250
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism... OMIM:300998
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Mitral valve prolapse, Atrial septal def... OMIM:618371
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Wilson Disease
Proximal muscle weakness in lower limbs, Hepatitis, Kayser-Fleischer ring, Abnormality of the men... ORPHA:905
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Eczematoid dermatitis, Breast hypopl... ORPHA:464306
Alexander Disease
Microcoria OMIM:203450
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Short 5th metacarpal, Arrhythmia, Paroxysmal supraventricular tachycardia,... OMIM:617877
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short tibia, Polydactyly, Median cleft upper lip, High palate, Cl... OMIM:300484
Isolated Osteopoikilosis
Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvi... ORPHA:166119
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Dental crowding, Umbilical hernia, Persistence of hemoglobin F, Persistence ... OMIM:619769
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,... OMIM:609638
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Short thorax, Long philtrum, Camptodactyly of finger, Low-set, posteriorl... ORPHA:2311
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Single transverse palmar ... OMIM:617061
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Coffin-Siris Syndrome 6
High, narrow palate, Clinodactyly, Retrognathia, Micrognathia, Deep philtrum, Brachydactyly, Atri... OMIM:617808
Liver Disease, Severe Congenital
Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, Ventricular septal de... OMIM:619991
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers... OMIM:615418
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th... OMIM:618974
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Dysplasia of the femoral head, Micrognathia, Mitral valve prolapse, Arachnodactyly... ORPHA:536467
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Cataract, Skeletal muscle atrophy, Hypogonadism, Decreased testicular size, Crypto... ORPHA:127
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Mitr... ORPHA:93932
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... ORPHA:98914
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... ORPHA:590
Frontorhiny
Preauricular skin tag, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly r... ORPHA:391474
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Downturned corners of mouth, Adrenal insufficiency, Hypohidrosis, Achalasia, Orthostatic hypotens... OMIM:615510
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis ORPHA:391428
3Mc Syndrome 3
Clinodactyly, Cleft upper lip, Preaxial polydactyly, Bifid scrotum, Diastasis recti, Cryptorchidi... OMIM:248340
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Hypoplasia of the iris, Micrognathia, Open mouth, Metatarsus valgus, Astigmatism, S... ORPHA:2479
Felty Syndrome
Cellulitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, Splenomegaly, Syno... ORPHA:47612
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Retrognathia, Long philtrum, Overlapping toe, Cryptorchidism, Down-sloping shoulders... OMIM:617452
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Insulin-resistant diabetes ... ORPHA:769
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger sy... ORPHA:158687
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... ORPHA:2399
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Death in infancy, Neonatal death, Bradycardia, Growth delay OMIM:617248
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Graves disease, Obesity, Palpitations, Shortened PR interva... ORPHA:79102
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... OMIM:616564
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Ve... OMIM:613680
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Inguinal hernia, Cryptorchidism, Pulmonary arterial hypertension, Atrial septal def... OMIM:614857
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Pulmonary artery stenosis, Aortic regurgitation, Abnormal cardiac septum morphology ORPHA:140952
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Midface retrusion,... OMIM:182290
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Testi... OMIM:601163
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Mitral regurgit... ORPHA:309282
Gorlin Syndrome
Wide nasal bridge, Carious teeth, Abnormal rib morphology, Macrocephaly, Abnormality of the sense... ORPHA:377
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Sepsis In Premature Infants
Hypotension, Decreased body weight, Bradycardia, Tachycardia, Small for gestational age ORPHA:90051
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Depressed nasal ridge, Thin ribs, Micrognathia, Short philtrum, Wide mouth, Short nose ORPHA:163966
Sarcoidosis
Cataract, Diabetes insipidus, Parotitis, Enlargement of parotid gland, Portal hypertension, Abnor... ORPHA:797
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Failure to thrive, Hypertrophic cardiomyopathy, Cryptorchidism, Neonatal death, Hyperte... OMIM:614052
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Nephritis, Recurrent pneumonia, Congestive heart failure, Hypertr... OMIM:617303
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Fucosidosis
Abnormality of the dentition, Decreased muscle mass, Cardiomegaly, Hypothyroidism, Hyperhidrosis,... ORPHA:349
Cornelia De Lange Syndrome 6
Low-set ears, Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Lo... OMIM:620568
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Skin rash, Cerebral edema... ORPHA:319213
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Skeletal muscle atrophy, Long philtrum, Wide distal femoral metaphysis... OMIM:614856
3Mc Syndrome 2
Wide nasal bridge, Hearing impairment, Downturned corners of mouth, Cleft upper lip, Depressed na... OMIM:265050
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural... ORPHA:2315
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Viss Syndrome
Genu valgum, Cleft soft palate, Micrognathia, Mitral valve prolapse, Contracture of the proximal ... OMIM:619472
Steatocystoma Multiplex
Natal tooth OMIM:184500
Lethal Kniest-Like Dysplasia
Low-set ears, Narrow chest, Short ribs, Anterior rib cupping, Macrocephaly, Wide anterior fontane... ORPHA:2347
Koolen-De Vries Syndrome
Open mouth, Cryptorchidism, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, Everte... OMIM:610443
Isolated Klippel-Feil Syndrome
Hearing impairment, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel anoma... ORPHA:2345
Myhre Syndrome
Low-set ears, Hypoplasia of the maxilla, Cleft lip, Limitation of joint mobility, Hearing impairm... OMIM:139210
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth ORPHA:1656
W Syndrome
Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Submucous cleft hard ... ORPHA:2804
Cutis Laxa, Autosomal Recessive, Type Iie
Long philtrum, Thick lower lip vermilion, Inguinal hernia, Deep palmar crease, Brachydactyly, Gen... OMIM:619451
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Median pseudocleft lip, Recurrent otitis media, Micrognathia, Cryptorc... OMIM:616462
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Short lower limbs, Hypertension, Bowing of the legs OMIM:219250
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Micrognathia, Narrow mouth, Missing ribs, Orofacial cleft,... ORPHA:3301
Prader-Willi Syndrome
Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased muscle mass, Genu valgum, Crypt... OMIM:176270
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Inguinal hernia, Ventricular septal def... OMIM:608572
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydac... OMIM:620072
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, High palate, Retrognathia, Joint hypermobility ORPHA:456328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Left ventricular hypertrophy, Muscular dystrophy, Corneal opacity OMIM:613153
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral cleft palate, Ventricular septal ... OMIM:301068
Silver-Russell Syndrome 1
Downturned corners of mouth, Decreased response to growth hormone stimulation test, Micrognathia,... OMIM:180860
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,... OMIM:611962
Hennekam Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal oral mucosa morphology, Conduct... ORPHA:2136
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Leukopenia, Splenomegaly, Skin rash, Myositis, Gastritis... ORPHA:809
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, ... ORPHA:93317
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... OMIM:619534
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... ORPHA:209959
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Lower limb hypertonia, Hepatosplenomegaly, Hemolytic anemia, Portal hypertens... OMIM:619487
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Congenital Enterovirus Infection
Hypotension, Hepatitis, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology,... ORPHA:292
Cardioacrofacial Dysplasia 2
Common atrium, Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu val... OMIM:619143
Mucolipidosis Type Iv
Palmoplantar keratoderma, Microdontia, Aplasia/Hypoplasia of the abdominal wall musculature, Ever... ORPHA:578
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Hypospadias, Short uvula, Micromelia, Agene... OMIM:614091
Meckel Syndrome 14
Postaxial foot polydactyly, Microretrognathia, Retrognathia, Tricuspid regurgitation, Micrognathi... OMIM:619879
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Hernia, Talipes equinovarus, Adducted thumb, Developmental cataract, Cornea... OMIM:616603
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Atrial septal defect, High palate, P... OMIM:609625
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Supernumerary nipple, Inguinal hernia, Astigmatism, Cryptorchidism... OMIM:618109
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... OMIM:268305
Ciliary Dyskinesia, Primary, 18
Male infertility, Situs inversus totalis, Immotile sperm, Absent inner dynein arms, Absent outer ... OMIM:614874
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Osteopenia, Broad nasal tip, Broad columella, Retrognathia, Depressed nasal tip,... ORPHA:488434
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi... OMIM:271640
Ring Chromosome 12 Syndrome
High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla... ORPHA:1439
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Absent vertebral body mineralization, Horizontal ribs, Barrel-s... OMIM:200610
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Bilateral... OMIM:106260
Miller-Dieker Lissencephaly Syndrome
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick ... OMIM:247200
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Autosomal Dominant Progressive External Ophthalmoplegia
Cataract, Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Go... ORPHA:254892
Congenital Fibrosis Of Extraocular Muscles
Finger aplasia, Cataract, Congenital fibrosis of extraocular muscles, Abnormal pupil shape, Hypog... ORPHA:45358
Short Stature-Micrognathia Syndrome
Small scrotum, Cataract, Failure to thrive, Cryptorchidism, Astigmatism, Decreased body weight, V... OMIM:617164
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Depressed nasal ridge, Thin ribs, Micrognathia, Increased susceptibility to fractur... OMIM:253290
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Low-set ears, Depressed nasal bridge, Thin ribs, Broad nasal tip, Midface retrusion, Anteverted n... OMIM:300232
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hypoplasia of the ... ORPHA:1826
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Secondary microcephaly, Pr... OMIM:105830
Refsum Disease
Cataract, Abnormal epiphysis morphology, Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, H... ORPHA:773
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Bdv Syndrome
Central hypothyroidism, Micrognathia, Cryptorchidism, Decreased circulating free T4 concentration... OMIM:619326
Prune Belly Syndrome
Congenital hip dislocation, Abnormality of the uterus, Tetralogy of Fallot, Decreased testicular ... ORPHA:2970
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Hearing impairment OMIM:301108
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Situs inversus totalis, Male infertility OMIM:612444
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Anteverted nares, Micrognathia, Hyperostosis, Abnormal thorax morphology... ORPHA:73230
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Macrocephaly, Abnormal palate morphology, Abnormal rib morphology ORPHA:1506
Goldberg-Shprintzen Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge,... OMIM:609460
Combined Oxidative Phosphorylation Deficiency 15
Small hand, Inguinal hernia, Single transverse palmar crease, Shortened PR interval, Ventricular ... OMIM:614947
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Thin upper lip vermilion, Oligodontia, Atrial septal defect, Hypospadi... OMIM:618330
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Cleft lip, Dental malocclusion, Inguinal hernia, Cryptorchidism, Hypogonad... OMIM:603457
Specc1L-Related Hypertelorism Syndrome
Short toe, Finger syndactyly, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Female pseudo... ORPHA:1519
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto... DECIPHER:39
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Median cleft upper lip, Iris coloboma, Cleft palate ORPHA:3374
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Odontoma ORPHA:2724
Juvenile Sialidosis Type 2
Cataract, Umbilical hernia, Abnormal heart morphology, Hepatosplenomegaly, Gingival overgrowth, I... ORPHA:93399
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Cryptorchidism, Atrial septal defect, Long philtrum ORPHA:466926
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Enlarged labia mino... OMIM:268300
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas... ORPHA:3103
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... ORPHA:2255
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate... OMIM:613805
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Kawasaki Disease
Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric... ORPHA:2331
Dyggve-Melchior-Clausen Disease
Hypoplastic facial bones, Hypoplastic scapulae, Pectus carinatum, Limitation of joint mobility, F... OMIM:223800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Persistence of primary teeth, Increased susceptibil... OMIM:619752
Zimmermann-Laband Syndrome 1
Low-set ears, Wide nasal bridge, Mandibular prognathia, Broad nasal tip, Hearing impairment, Dela... OMIM:135500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hepatosplenomegaly, Micrognathia, Mitral regurgitation, Cryptorchidism, Ven... OMIM:614866
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Supravalvular ao... OMIM:219100
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidi... OMIM:612651
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Intellectual Disability-Strabismus Syndrome
Abnormality of the dentition, Joint contracture of the hand, Hypospadias, Decreased response to g... ORPHA:363528
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Temporoma... ORPHA:580
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Secondary microce... ORPHA:476126
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Bilateral single transverse palmar creases, Ventricular septal... ORPHA:1913
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Congestive heart failure, Tented upper lip vermilion, Open mouth, Atrial s... ORPHA:500533
Mowat-Wilson Syndrome
Tooth malposition, Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Recurrent otit... OMIM:235730
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Thick lower lip vermilion, Abnormal heart valve morphology, Genu valgum, Sp... ORPHA:583
Wolf-Hirschhorn Syndrome
Megalocornea, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Arachnodactyly, Tali... ORPHA:280
Blau Syndrome
Cataract, Flexion contracture of toe, Band keratopathy, Uveitis, Nongranulomatous uveitis, Eczema... OMIM:186580
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... OMIM:609152
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimu... OMIM:618096
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Delayed eruption of teeth, Hearing impairment, Macrocephaly, Premature loss of prim... ORPHA:667
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Cataract, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Episodic hemolytic anemia, Membranoproliferative glomeruloneph... ORPHA:251004
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abnormality of the female genitalia, Abnormal metac... ORPHA:228123
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Broad thumb, Toe syndactyly, Downturned corners of mouth, Long philtrum, M... OMIM:619720
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Von Hippel-Lindau Disease
Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Neoplasm of the pancreas,... ORPHA:892
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Alkuraya-Kucinskas Syndrome
Hand clenching, Cataract, Small scrotum, Clinodactyly, Overlapping toe, Overlapping fingers, Micr... OMIM:617822
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardia... OMIM:277400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Abnormal columella morphology, Narrow mouth, Malar flattening, Joint hyper... ORPHA:2463
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Long philtrum, Ventricular septal defect, Postaxial polydactyly, Am... OMIM:617895
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle we... OMIM:157640
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Retrognathia, Clinodactyly, Widely spaced teeth, Arachnodactyly, Syndactyly OMIM:619092
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Peters anomaly, Cleft soft palate, Micrognathia, Smooth philtrum, Brachydactyly, Atr... OMIM:614526
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Short toe, Astigmatism, C... ORPHA:464311
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Cardiomegaly, Severe failure t... ORPHA:97297
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:1302
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Finger syndactyly, Micrognathia, Cryptorchidism, High palate, Symphalangism affect... ORPHA:2990
Camurati-Engelmann Disease
Carious teeth, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abnormal morphology... ORPHA:1328
Frontoocular Syndrome
Micrognathia, Narrow mouth, Narrow philtrum, Atrial septal defect, High palate, Pulmonic stenosis OMIM:605321
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... OMIM:601186
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Left ventricular ... ORPHA:308552
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Hypoxemia OMIM:610921
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Facial hypotonia, Decreased scrotal rugation... ORPHA:261311
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ... OMIM:241080
Adams-Oliver Syndrome
Short distal phalanx of finger, Cataract, Gastrointestinal hemorrhage, Finger syndactyly, Tetralo... ORPHA:974
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hypogonadism, Tetralogy of Fallot, Hand polydactyly, Hy... ORPHA:2316
Sialidosis Type 1
Cataract, Skeletal muscle atrophy, Thick lower lip vermilion, Splenomegaly, Hernia, Corneal opacity ORPHA:812
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
X-Linked Hypophosphatemia
Rachitic rosary, Limitation of joint mobility, Rickets, Enthesitis, Sensorineural hearing impairm... ORPHA:89936
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Monosomy 9P
Low-set ears, Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Limitation o... ORPHA:261112
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Ventri... OMIM:605039
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili... OMIM:620114
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Vitreous hemorrhage, ... ORPHA:39044
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, Everted lower lip vermilion, Atrial septa... ORPHA:228399
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Carious teeth, Xerostomia, Congestive heart failure, Narrow foramen obturato... ORPHA:220393
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Sensorineural hearing impairment, High palate, High, narrow palate, C... OMIM:122470
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hearing impairment, Thick lower lip vermilion, Recurrent otitis media,... OMIM:309900
Chst3-Related Skeletal Dysplasia
Flexion contracture, Barrel-shaped chest, Delayed eruption of teeth, Long philtrum ORPHA:263463
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,... ORPHA:163979
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial sep... OMIM:601927
Ayme-Gripp Syndrome
Craniofacial asymmetry, Abnormality of the dentition, Long philtrum, Narrow mouth, Malar flatteni... OMIM:601088
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Pericarditis ORPHA:163596
Dubowitz Syndrome
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Micrognathia, Cryptor... OMIM:223370
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvul... ORPHA:3191
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Microcytic anemia, Recurrent otitis media, Arrhythmia, Fle... OMIM:256040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Retrognathia, Thoracic hypoplasia, Anteverted nares, Open mouth, Exaggera... ORPHA:254528
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Microgn... OMIM:620070
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... ORPHA:1106
Blau Syndrome
Posterior uveitis, Cataract, Keratitis, Xerostomia, Camptodactyly of finger, Large vessel vasculi... ORPHA:90340
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Hypospadias, Dental crowding, Finger syndactyly, Cryptorchidism, Singl... ORPHA:435938
Axial Spondylometaphyseal Dysplasia
Osteopenia, Narrow chest, Thoracic hypoplasia, Flaring of lower rib cage, Short ribs, Deformed ri... ORPHA:168549
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cataract OMIM:618321
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Long philtrum, Umbilical hernia, Hypertrophic ... ORPHA:1517
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, H... ORPHA:900
Alternating Hemiplegia Of Childhood
Mydriasis, Downturned corners of mouth, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnor... ORPHA:2131
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, A... ORPHA:755
Vascular Ehlers-Danlos Syndrome
Keratoconus, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, Cryptorchidism, Mitral ... ORPHA:286
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wo... OMIM:191100
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Hearing impairment, Tracheomalacia, Thick lower lip ve... ORPHA:261652
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Infant Botulism
Hypotension, Mydriasis, Xerostomia, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chr... ORPHA:178478
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Osteoarthritis, Abnor... ORPHA:93351
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Neuhauser Syndrome
Bifid uvula, Long philtrum, Megalocornea, Hypoplasia of the iris, Genu valgum, Micrognathia, Prim... OMIM:249310
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Abnormal enchondral ossification, Short ribs, Cupped ribs, ... OMIM:156530
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Irregular dentition, Camptodactyly, Pericardial lymphangiectasia, Syndactyly OMIM:616006
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Hypothyr... OMIM:212065
Rubinstein-Taybi Syndrome
Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, At... ORPHA:783
Familial Mediterranean Fever
Vasculitis, Oral leukoplakia, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Arrhyt... ORPHA:342
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Oral ulcer, Myo... OMIM:612541
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Micrognathia, Arachnodactyly, Hernia, Patent ductus arte... ORPHA:314588
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Recombinant 8 Syndrome
Abnormality of the dentition, Small scrotum, Downturned corners of mouth, Cleft upper lip, Campto... ORPHA:96167
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... ORPHA:93258
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Midface retrusion, Micrognathia, Sensorineural hearing impairment,... ORPHA:261197
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Arachnodactyly, Atrial septal defect, Cleft palate ORPHA:93946
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Keloids, Wrist swelling, Camptodactyly of finger,... OMIM:309000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Arrhythmia OMIM:273400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Abno... ORPHA:2637
Limb Body Wall Complex
Iris coloboma, Cleft lip, Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalan... ORPHA:2369
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Congenital diaphragmatic... OMIM:617602
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media, Narrow mouth,... ORPHA:3455
Multiple Sulfatase Deficiency
Cataract, Broad thumb, Splenomegaly, Smooth philtrum, Corneal opacity, Broad hallux phalanx ORPHA:585
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Prominent nasal bridge, Senso... OMIM:619269
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Immotile sper... OMIM:613807
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... ORPHA:2063
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Umbilical hernia, Genu valgum, Arachnodactyly, Atrial septal defect, High... ORPHA:1035
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ... ORPHA:3429
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Dental crowding, Increased adipose tissue around the neck, Premat... OMIM:248370
Kilquist Syndrome
Xerostomia, Wide mouth, 2-3 toe syndactyly, Hypoplasia of teeth, Mandibular prognathia, Coxa valga OMIM:619080
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... OMIM:182250
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Macroglossia, Delayed eruption of teeth, Eczematoid dermatitis, Thick lower ... ORPHA:369950
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
20P13 Microdeletion Syndrome
Microcornea, Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper... ORPHA:313781
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Tarp Syndrome
Clinodactyly, Subdural hemorrhage, Tetralogy of Fallot, Micrognathia, Single transverse palmar cr... OMIM:311900
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... ORPHA:261330
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Micrognathia, Bilateral cleft palate, Broad phalanx, Bilateral ta... ORPHA:56304
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Down Syndrome
Keratoconus, Narrow mouth, Bilateral single transverse palmar creases, Open mouth, Protruding ton... ORPHA:870
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Shigellosis
Pneumonia, Hypovolemic shock, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis... ORPHA:810
Farber Disease
Skeletal muscle atrophy, Short toe, Short finger, Abnormality of the wrist, Hepatosplenomegaly, A... ORPHA:333
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Epistaxis ORPHA:721
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Micrognathia, Protruding tongue, Cryptorchidism, Ventricular septal defect,... OMIM:214100
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral regurgitation, Mitral valve prolaps... OMIM:615873
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Hemophagocytosis, Fasci... ORPHA:39812
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Cleft upper lip, Abnormal sternum morphology, Macrocephaly, Short ribs, Supern... OMIM:109400
Congenital Tracheomalacia
Intercostal retractions, Abnormal heart morphology, Tetralogy of Fallot, Apnea, Cyanosis, Ventric... ORPHA:95430
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Umbilical h... OMIM:600001
Schwartz-Jampel Syndrome
Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Sprengel anomaly, Everted lower lip ver... ORPHA:800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Limb joint contracture, Knee flexion contracture, Cyanotic episode ORPHA:284417
Filippi Syndrome
Finger syndactyly, Supernumerary nipple, Bilateral single transverse palmar creases, Cryptorchidi... ORPHA:3255
Alg9-Cdg
Rhizomelia, Tricuspid regurgitation, Abnormal heart morphology, Hepatic cysts, Ventricular septal... ORPHA:79328
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis ORPHA:99745
Serotonin Syndrome
Hypotension, Mydriasis, Rhabdomyolysis, Hyperhidrosis, Tachycardia, Hypertension ORPHA:43116
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Small hand, Abnormality of the dentition, Cataract, Long philtrum, Abnormality of th... OMIM:300968
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... OMIM:619656
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurrent pneumonia, F... OMIM:215150
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest, Dental crowding, Secondary microcephaly, Bulbous nose, Micrognathia, Pro... OMIM:620601
Meckel Syndrome
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Bowing of the long bones, Male pseudohe... ORPHA:564
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Patent foramen ov... OMIM:610505
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Cataract, Allergic conjunctivitis, Bicuspid aortic valve, Chordee, Delayed... OMIM:176690
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Dental crowding, Clinodactyly, Downturned corners of mouth, Thick lower lip vermil... ORPHA:261323
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/... OMIM:118100
Cerebrofaciothoracic Dysplasia
Narrow chest, Midface retrusion, Cleft upper lip, Low-set, posteriorly rotated ears, Wide mouth, ... ORPHA:1394
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Small scrotum, Small hand, Xerostomia, Cryptorchidism, Atrial sep... ORPHA:398069
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Microcornea, Carious teeth, Clitoral hypertrophy, Diastema, Micrognat... OMIM:244450
Cat-Eye Syndrome
Preauricular skin tag, Preauricular pit, Hearing impairment, Abnormal rib morphology ORPHA:195
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Small for gestational age, Capillary... ORPHA:1041
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Aplasi... ORPHA:3309
Noonan Syndrome 6
Polyhydramnios, Pulmonic stenosis, Hypertrophic cardiomyopathy, Edema OMIM:613224
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Trichinellosis
Skin rash, Conjunctival hyperemia, Abnormal uvea morphology, Facial palsy, Trismus, Retinal hemor... ORPHA:863
Giant Cell Arteritis
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Proteus Syndrome
Carious teeth, Finger syndactyly, Decreased muscle mass, Chorioretinal coloboma, Myofibrillar myo... ORPHA:744
Q Fever
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Hepatosplenomeg... ORPHA:781
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... ORPHA:2754
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Hearing im... ORPHA:1775
Friedreich Ataxia 2
Congestive heart failure, Hammertoe, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Decreased muscle mass, Aortic dissection, Elbow ... ORPHA:1900
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Fish-Eye Disease
Angina pectoris, Splenomegaly, Corneal opacity ORPHA:79292
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Saethre-Chotzen Syndrome
Low-set ears, Lambdoidal craniosynostosis, Hypoplasia of the maxilla, Coronal craniosynostosis, H... OMIM:101400
Bone Marrow Failure Syndrome 5
Testicular atrophy, Growth delay, Short stature, Hypogonadism OMIM:618165
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Sacroiliac arthritis, Arrhythmia, Oligoarthritis, Enthe... OMIM:106300
Werner Syndrome
Cataract, Secondary amenorrhea, Skeletal muscle atrophy, Congestive heart failure, Hypogonadism, ... ORPHA:902
Chromosome 8Q22.1 Duplication Syndrome
Microcornea, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged inte... OMIM:151200
Smith-Lemli-Opitz Syndrome
Small scrotum, Postaxial foot polydactyly, Recurrent otitis media, Overlapping toe, Micrognathia,... OMIM:270400
Olmsted Syndrome 1
Palmoplantar keratoderma, Autoamputation of digits, Hyperhidrosis, Corneal opacity, Flexion contr... OMIM:614594
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology OMIM:602248
Primrose Syndrome
Hearing impairment, Narrow mouth, Hip contracture, Torus palatinus, High palate, Macrotia, Hypopl... OMIM:259050
Al Kaissi Syndrome
High, narrow palate, Small hand, Clinodactyly, Long philtrum, Macrodontia, Malar rash, Thin upper... OMIM:617694
Carpenter Syndrome 2
Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Ta... OMIM:614976
Ivic Syndrome
Synostosis of carpal bones, Joint stiffness, Radioulnar synostosis, Arrhythmia, Rectovaginal fistula ORPHA:2307
Barth Syndrome
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:302060
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Traboulsi Syndrome
Bifid uvula, Cataract, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Ectopia len... OMIM:601552
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... ORPHA:201
Developmental Delay, Language Impairment, And Ocular Abnormalities
Facial telangiectasia, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmo... OMIM:620141
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Small thenar eminence, Neut... OMIM:105650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Relapsing Polychondritis
Cataract, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Large vessel vasculitis, ... ORPHA:728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contract... OMIM:613150
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Hypomagnesemia 3, Renal
Genu valgum, Astigmatism, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Hyperten... OMIM:248250
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Teeth Present At Birth
Natal tooth OMIM:187050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Botulism
Mydriasis, Xerostomia, Arrhythmia ORPHA:1267
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Long philtrum, Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Mi... OMIM:259720
Buratti-Harel Syndrome
Bifid uvula, Recurrent pneumonia, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Crypto... OMIM:619314
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R... ORPHA:289176
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth... OMIM:305100
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Cholelithiasis, Osteomyelitis ORPHA:171876
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body we... ORPHA:263455
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Tetralog... ORPHA:2473
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Failure to thrive, Overgrowth of extern... ORPHA:508
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Long philtrum, Tooth agenesis, Inguinal hernia, Cryptorchidism, Non-midline cl... ORPHA:1252
Lathosterolosis
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, L... ORPHA:46059
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Familial Mediterranean Fever
Erysipelas, Aphthous ulcer, Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, A... OMIM:249100
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis ORPHA:85414
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Fibrous syngnathia, Lip pit, Joint stiffness, Micrognathia, Thin upper lip vermi... ORPHA:1300
Trichorhinophalangeal Syndrome, Type Ii
Carious teeth, Hyperplasia of the maxilla, Hydrometrocolpos, Recurrent otitis media, Micrognathia... OMIM:150230
Zygomycosis
Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemo... ORPHA:73263
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Abnormal palate morphology, Hernia, Patent ductus arteriosus ORPHA:251046
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th... OMIM:249000
Branchiootic Syndrome
Abnormality of the outer ear, Preauricular skin tag, Conductive hearing impairment, Atresia of th... ORPHA:52429
3Mc Syndrome 1
Short 5th finger, Cleft lip, Caudal appendage, Dental crowding, Cleft upper lip, Supernumerary ni... OMIM:257920
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Skeletal muscle atrophy, Hypogonadism, Elbow flexion co... OMIM:616200
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Micrognathia, Short lingual frenulum, Congenital diaphragmatic hernia, Cry... ORPHA:96121
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Long philtru... ORPHA:77258
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Bowed humerus, Intrav... OMIM:616507
Distal Deletion 10Q
Clinodactyly, Micrognathia, Atrial septal defect, High palate, Patent ductus arteriosus, Hip disl... ORPHA:96148
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Cubitus valgus, Deep palmar crease, Hyperhidrosis, Atrial septal def... OMIM:613706
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Hypertrophic cardiomyopathy, Overlapping toe, Overlapping fingers, Tented upper li... OMIM:619383
Vici Syndrome
Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help... OMIM:242840
Foodborne Botulism
Mydriasis, Xerostomia, Arrhythmia ORPHA:228371
Smith-Mccort Dysplasia 2
Mandibular prognathia, Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited ... OMIM:615222
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Neutrope... ORPHA:175
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ... OMIM:256800
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Cystinosis
Hypothyroidism, Portal hypertension, Myopathy, Corneal opacity ORPHA:213
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate ORPHA:1997
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Small hand, Widely spaced teeth, Micrognathia, Bilateral single transverse... ORPHA:459061
Al-Raqad Syndrome
Sandal gap, Narrow mouth, Thin upper lip vermilion, Atrial septal defect, Brachydactyly OMIM:616459
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, Micrognathia, Postaxial polydact... OMIM:614099
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Failure to thrive in infancy, ... ORPHA:746
Norrie Disease
Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil morphology, Mal... ORPHA:649
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Bowing of the arm, Coxa vara, Protrusio acetabuli, Bowing of the legs OMIM:613982
Trisomy 18
Narrow mouth, Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Ventri... ORPHA:3380
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Joint stiffness, A... ORPHA:2167
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Depressed nasal bridge, Thin ribs, Narrow chest, Midface retrusion, Thoracic hypopl... OMIM:151210
Orofacial Cleft 15
Palate fistula, Inguinal hernia, Single transverse palmar crease, Bilateral cleft palate, Cryptor... OMIM:616788
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Limitation of joint mobility, Barrel-shaped chest... OMIM:607326
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Delayed eruption of teeth, Oligodontia ORPHA:447896
Fabry Disease
Congestive heart failure, Transient ischemic attack, Corneal dystrophy, Angina pectoris, Arrhythm... OMIM:301500
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Obesity, Ovarian cyst, Ventricular s... OMIM:188400
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism, Hypohidrosis ORPHA:461
Ogden Syndrome
Cardiogenic shock, Cryptorchidism, Ventricular septal defect, Arrhythmia, Torticollis ORPHA:276432
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Micrognathia, T... OMIM:617022
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow pelvis bone, Long philtrum, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Malar f... OMIM:207410
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Preaxial polydactyly, Micrognathia, Wide... OMIM:243605
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Micrognathia, Median cleft palate, Submucous cleft hard palate, Ventricul... OMIM:301043
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Irregu... OMIM:618162
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Hypospadi... OMIM:305450
Scedosporiosis
Pneumonia, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Supernumerary ve... OMIM:609813
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Abnormal hip bone morphology, Epiphyseal stippling, Inguinal hernia,... ORPHA:584
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Tangier Disease
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Opacification of ... OMIM:205400
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Long philtrum, Bifid scrotum, Micrognathia, Malar flattening, Cryptorchidism, Triangula... OMIM:257300
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... ORPHA:54595
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microcornea, Cataract, Keratoconjunctivitis sicca, Hypohidrosis, Sc... ORPHA:1806
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Orchitis, Internal hemorrhage, Br... ORPHA:99826
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Barber-Say Syndrome
Wide nasal bridge, Atresia of the external auditory canal, Hearing impairment, Delayed eruption o... ORPHA:1231
Osteogenesis Imperfecta, Type Ii
Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Absent ossification o... OMIM:166210
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Cardiac amyl... OMIM:105120
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Broad thumb, Gastrointestinal... ORPHA:79076
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... OMIM:266920
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Conductive hearing impa... ORPHA:2876
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck OMIM:271630
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Conductive hearing impairment, Retrognathia, Thi... ORPHA:2785
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Skeletal muscle atrophy, Splenomegaly, Flared iliac wing, Opacification o... OMIM:230650
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, High palate, Retrognathia, Joint hypermobility OMIM:300219
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Caudal appendage, Prominent palatine ridges, Narrow m... OMIM:272950
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Thin upper lip vermilion,... ORPHA:521308
Juberg-Hayward Syndrome
Radioulnar synostosis, Orofacial cleft, Microcephaly, Abnormal rib morphology, Wide nose ORPHA:2319
Porphyria Variegata
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension ORPHA:79473
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Brachydactyly, Type E1
Short clavicles, Multiple impacted teeth, Straight clavicles OMIM:113300
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Clinodactyly, Long philtrum, Hepatosplenomegaly, Talipes equinovarus, Broad phil... ORPHA:397709
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Abnormali... ORPHA:1101
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... ORPHA:91495
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Narrow chest, Delayed eruption of teeth, Recurrent otiti... OMIM:309350
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Aortic regurgitation, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Adult-Onset Still Disease
Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneumonitis, Anemia, Arthritis, Ne... ORPHA:829
Immunodeficiency 9
Lymphopenia, Recurrent aphthous stomatitis, Myopathy, Hypoplasia of the thymus, Amelogenesis impe... OMIM:612782
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apn... OMIM:252010
Intellectual Disability-Alacrima-Achalasia Syndrome
Deep philtrum, Achalasia, Anisocoria ORPHA:289483
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, Neonatal death, 2-3 toe syndactyly, Talipes equinovarus, Cutaneo... OMIM:236500
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Plague
Mydriasis, Hypotension, Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenome... ORPHA:707
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los... ORPHA:1811
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonary arterial hypertension OMIM:619064
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Cachexia, Arrhythmia, Distal arthrogryposis ORPHA:42
Charcot-Marie-Tooth Disease Type 4C
Distal amyotrophy, Facial paralysis, Foot dorsiflexor weakness, Weakness of facial musculature, H... ORPHA:99949
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Jacobsen Syndrome
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Ventricula... ORPHA:2308
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica... OMIM:115470
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Everted lower lip vermilion, At... OMIM:616898
Neurocardiofaciodigital Syndrome
Cataract, Retrognathia, Tetralogy of Fallot, Polydactyly, Sclerocornea, Atrial septal defect, Dou... OMIM:619869
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Aplasia of the left hemidiap... ORPHA:2437
Kinsship Syndrome
Low-set ears, Osteopenia, Downturned corners of mouth, Cervical ribs, Thick lower lip vermilion, ... OMIM:619297
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
African Trypanosomiasis
Myelitis, Keratitis, Third degree atrioventricular block, Second degree atrioventricular block, C... ORPHA:3385
Aicardi Syndrome
Block vertebrae, Cleft upper lip, Prominence of the premaxilla, Protruding ear, Supernumerary rib... ORPHA:50
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Tented upper li... ORPHA:896
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... ORPHA:124
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c... ORPHA:199
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Cholera
Hypotension, Palmoplantar cutis laxa, Tachycardia, Hypovolemic shock ORPHA:173
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... OMIM:615284
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigm... OMIM:600268
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Megalencephaly
Long penis, Genu valgum, Macroorchidism, Atrial septal defect ORPHA:2477
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Scleritis, Abnormal pelvis bone morphology, Corneal erosion, Eczematoid dermatiti... ORPHA:2273
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Abnormal rib morphology,... ORPHA:474
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia OMIM:614381
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cataract, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Failure to thrive, Hypertrop... OMIM:615471
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... OMIM:308050
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eryth... OMIM:158310
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocar... OMIM:212140
Jacobsen Syndrome
Hypospadias, Microcornea, Annular pancreas, Chorioretinal coloboma, Micrognathia, Cryptorchidism,... OMIM:147791
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Precocious puberty, Restrictive cardiomyopathy, Slender long bone, Downturne... ORPHA:369837
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, Astigmatism, 2-3 toe synd... OMIM:619471
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Respiratory distress, Oligohydramnios, Cyanosis, Ventricul... ORPHA:141127
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr... OMIM:253800
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Lower limb hypertonia, Pancytopenia, Macrocytic ... ORPHA:2169
Goldberg-Shprintzen Megacolon Syndrome
Iris coloboma, Finger syndactyly, Bifid scrotum, Hypospadias, Cleft palate ORPHA:66629
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly OMIM:263630
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Aniridia, Micrognathia, Corneal opacity, Developmental glaucoma ORPHA:1064
Noonan Syndrome 1
Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Synovitis, Atrial septal d... OMIM:163950
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Pulmo... ORPHA:2519
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... ORPHA:811
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo... ORPHA:238468
Tyrosinemia Type 2
Hyperhidrosis, Palmoplantar keratoderma, Malar flattening, Corneal opacity ORPHA:28378
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Atopic dermatitis, Dental malocclusion, Open bite, Hypertrophic car... OMIM:115150
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Bifid scrotum, Hand polydactyly, Shawl scrotum, High palate, Hypospadi... OMIM:239710
Cog1-Cdg
Posterior rib gap, Wide nasal bridge, Osteopenia, Long philtrum, Low-set, posteriorly rotated ear... ORPHA:263508
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Hypophosphatemic rickets, Cryptorchidism, Arrhythmia, Rayna... ORPHA:2874
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, H... OMIM:229850
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Micrognathia, Malar fla... ORPHA:1787
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Oxygen desaturation on exertion, Peripheral edema, Cyanosis, Increased... ORPHA:60025
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... ORPHA:99725
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Narrow mouth, Mitral regurgitation, Mitral valve prolapse, Cryptorchidism, Arachnodactyly, Talipe... OMIM:601776
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Diabetes mellitus, Skeletal muscle atrophy ORPHA:96
Fraser Syndrome 1
Clitoral hypertrophy, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal heart morph... OMIM:219000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Atopic dermatitis, Cutaneous syndactyly of toes, Cleft lip, Cleft upper lip, Cutaneous finger syn... OMIM:225060
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Trichothiodystrophy 3, Photosensitive
Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Eclabion OMIM:616395
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the ovary, Abdominal ob... OMIM:619321
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypopla... ORPHA:3107
Blepharocheilodontic Syndrome 2
Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis OMIM:617681
Microphthalmia, Syndromic 6
Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Cryptorchidism... OMIM:607932
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Downturned corners of mouth, Cryptorchidism, Ventricular septal defect, Thin u... ORPHA:457193
Retinoblastoma
Cellulitis, Hypopyon, Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Heterochr... ORPHA:790
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Malar flattening,... ORPHA:246
Houge-Janssens Syndrome 3
Umbilical hernia, Megalocornea, Muscular ventricular septal defect, Inguinal hernia, Single trans... OMIM:618354
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect OMIM:113301
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Myopathy, Rhabdomyolysis, Ar... OMIM:609015
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Hypospadias, Eczematoid dermatitis, Abnormal dental enamel morphology, Abnorma... ORPHA:85199
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Delayed eruption of permanent teeth, Tented upper lip vermilion, Microcephaly,... ORPHA:521445
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Subvalvul... OMIM:613001
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Short nose, Hypoplasia of the maxilla, Downturned corners of mo... ORPHA:500150
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Cleft palate ORPHA:261272
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Abnormality of the dentition, Mandibular prognathia, Cryptorchidism, Hypoplastic nip... OMIM:618505
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o... ORPHA:261243
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cataract, Small hand, Leukocoria, Short foot, Cleft palate ORPHA:2714
Monosomy 22
Finger syndactyly, Long philtrum, Retrognathia, Contractures of the large joints, Hepatosplenomeg... ORPHA:96123
Baller-Gerold Syndrome
Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Limited... OMIM:218600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Small for gestational a... OMIM:614813
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Exa... OMIM:615879
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ve... OMIM:134780
Pagod Syndrome
Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital... ORPHA:991
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Sensorineural hearing impairment, Ta... ORPHA:3214
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, He... ORPHA:2072
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Long philtrum, Retrognathia, Cryptorchidism, Arachnodactyly, S... ORPHA:73246
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Pterygium, Oral mucosal blisters, Enamel hypoplasia, Recurrent skin... ORPHA:79403
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Arrhythmia, Asymmetric radial dysplasia ORPHA:2878
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Skeletal muscle atrophy, Progeroid facial appearance, Flexion contracture,... ORPHA:75496
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis ORPHA:2032
Choanal Atresia
Respiratory distress, Cyanosis ORPHA:137914
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Umbilical hernia, Sup... ORPHA:1001
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic her... OMIM:312870
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms OMIM:614935
Axial Mesodermal Dysplasia Spectrum
Preauricular skin tag, Micrognathia, Gingival overgrowth, Missing ribs, Abnormal rib morphology, ... ORPHA:1834
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Floating-Harbor Syndrome
Low-set ears, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Broad nasa... ORPHA:2044
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Hyperkalemic Periodic Paralysis
Arrhythmia, Flexion contracture, Congestive heart failure ORPHA:682
Listeriosis
Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ... ORPHA:533
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Abnormal m... ORPHA:3224
Iatrogenic Botulism
Mydriasis, Xerostomia, Orthostatic hypotension ORPHA:254509
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Cryptorchidism, Ventricular septal defect, Sclerocornea, Hypoplasia of penis, Iris c... ORPHA:77298
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Extramedullary hematopoiesis, Tet... ORPHA:2886
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Left v... ORPHA:365
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Patent ductus arteriosus, Limb undergrowth, Hypothyroidism, Atrial septal defect, J... OMIM:618005
Immunodeficiency 49
Natal tooth, Micrognathia, Eosinophilia, Short philtrum, Posteriorly rotated ears OMIM:617237
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Death in childhood, Neonatal death, Pulmonary arterial hypertension, Bra... OMIM:614437
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Micromelia, Finger syndactyly, Tetralogy of Fallot, Micrognathia, Situs in... ORPHA:1908
Aspergillosis
Abnormal rib morphology, Nasal congestion, Osteomyelitis, Eosinophilia, Sinusitis ORPHA:1163
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Intracranial hemorrhage, Acrocyanosis ORPHA:49566
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... ORPHA:90348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Muscular dystrophy, Congenital contracture, Peters anomaly, Cleft upper lip, Megalocorn... OMIM:236670
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Choroidal neovascularization, Cryptorchidism, Syndactyly ORPHA:404451
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Anteverte... ORPHA:254519
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Mi... OMIM:263750
Mogs-Cdg
Retrognathia, Overlapping fingers, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly,... ORPHA:79330
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Complete atrioventricular canal... OMIM:264480
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Malar flattening, Smooth philtrum, Thin ve... OMIM:601853
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Cleft lip, Conductive h... OMIM:280000
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Acrocyanosis, Urticaria ORPHA:343
Pallister-Hall Syndrome
Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Hydrometrocolpos, Polydac... ORPHA:672
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Large earlobe, Anteverted nares,... ORPHA:1675
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... ORPHA:91139
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Sutural cataract, Atrial septa... OMIM:612474
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Townes-Brocks Syndrome
Broad thumb, Toe syndactyly, Abnormal vagina morphology, Chorioretinal coloboma, Cryptorchidism, ... ORPHA:857
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Ear pain, Advanced eruption of teeth, Angular cheilitis ORPHA:2309
Spondyloocular Syndrome
Abnormality of the dentition, Cataract, Posterior subcapsular cataract, Overlapping toe, Mitral v... OMIM:605822
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Amelogenesis imperfecta, Enamel hypoplasia, Corneal pterygium OMIM:245660
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Anisocoria, Achalasia OMIM:300858
Restrictive Dermopathy
Low-set ears, Choanal atresia, Thin ribs, Osteopenia, Natal tooth, Aplasia/Hypoplasia involving t... ORPHA:1662
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Fanconi Anemia, Complementation Group F
Pneumonia, Absent thumb, Short thumb, Microphallus, Decreased response to growth hormone stimulat... OMIM:603467
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... OMIM:263520
Thanatophoric Dysplasia
Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Brachydactyly, Atria... ORPHA:2655
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Tetralogy of Fallot, Ab... ORPHA:1335
Localized Scleroderma
Vasculitis, Sclerosis of finger phalanx, Arrhythmia, Raynaud phenomenon, Arthritis, Flexion contr... ORPHA:90289
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Clinodactyly, Limb hypertonia, Syndactyly OMIM:618087
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis OMIM:618426
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Apla... ORPHA:959
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Cardiofaciocutaneous Syndrome 4
Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Proboscis Lateralis
Abnormality of the maxillary sinus, Microcornea, Abnormal facial skeleton morphology, Cataract, L... ORPHA:141099
Fontaine Progeroid Syndrome
Small scrotum, Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue... OMIM:612289
Alazami Syndrome
Slender long bone, Widely spaced teeth, Malar flattening, Atrial septal defect, Thick vermilion b... ORPHA:319671
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233710
Floating-Harbor Syndrome
Broad thumb, Carious teeth, Recurrent otitis media, Cryptorchidism, Atrial septal defect, Broad f... OMIM:136140
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Spondyloenchondrodysplasia
Pectus carinatum, Midface retrusion, Dental malocclusion, Delayed eruption of teeth, Arthritis, J... ORPHA:1855
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Everted lower ... OMIM:252930
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hy... OMIM:619573
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Broad n... OMIM:129900
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Micrognathi... ORPHA:808
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph... OMIM:251750
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly OMIM:119580
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Corneal opacity OMIM:620469
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Atrial septal defect, Developmental cataract, Ventricular septal defect ORPHA:357225
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Micrognathia, Mitral valve prolapse, Arachnodactyly, Short philtrum, At... OMIM:300986
Trisomy 20P
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi... ORPHA:261318
Fanconi Anemia, Complementation Group A
Male infertility, Abnormal heart morphology, Cryptorchidism, Short stature, Small for gestational... OMIM:227650
Kbg Syndrome
Widely-spaced maxillary central incisors, Underdeveloped nasal alae, Cervical ribs, Long philtrum... OMIM:148050
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Tachypnea, Pulmonary arterial hypertension, Hypoxemia OMIM:610913
Watson Syndrome
Pulmonic stenosis OMIM:193520
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis OMIM:207950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Flaring of rib cage, Stomatitis, Osteolysis, ... OMIM:612852
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... OMIM:150400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Limb hypertonia, Cyanosis OMIM:619580
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Malar flattening, Abnormal mitral valve morphol... ORPHA:1292
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Craniofacioskeletal Syndrome
Hypospadias, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, Absent gallbl... OMIM:300712
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Generalized osteosclerosis, Raynau... ORPHA:416
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Conjunctival hyperemia, Cuta... ORPHA:2890
Gaucher Disease
Gingival bleeding, Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatitis, Abn... ORPHA:355
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Bifid scrotum, Preaxial hand polydactyly, Ab... ORPHA:887
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage, Anasarca ORPHA:86309
Ramos-Arroyo Syndrome
Carious teeth, Keratitis, Smooth tongue, Long philtrum, Xerostomia, Narrow mouth, Chorioretinal a... ORPHA:1051
Kyphomelic Dysplasia
Low-set ears, Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Cleft up... OMIM:211350
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral cleft palate, Bifid nose, Absen... OMIM:610828
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Short lingual frenulum, Nar... OMIM:617360
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Chronic oral candidiasis, ... OMIM:615758
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Narrow mouth, Polydactyly, Short... ORPHA:59315
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Rectovagin... OMIM:243800
Neurofibromatosis Type 1
Precocious puberty, Cataract, Chronic myelogenous leukemia, Slender long bone, Chorioretinal colo... ORPHA:636
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia ORPHA:228305
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Tricuspid valve prolapse, Multiple lipomas, Lip... ORPHA:2396
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Derm... ORPHA:100078
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Wide mouth, Inguinal hernia, Cryptorchidism, Down-sloping sho... OMIM:227330
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Short digit, Brachydactyl... OMIM:615789
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Thickened ribs... OMIM:252920
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilio... OMIM:619727
Craniofacial Microsomia 1
Preauricular skin tag, Hypoplasia of the maxilla, Duplicated tragus, Conductive hearing impairmen... OMIM:164210
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233690
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Leukocytosis, Arrhythmia, Myocarditis, ... ORPHA:31824
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Sit... ORPHA:199302
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Reduced bone mineral density, Congestive heart failure ORPHA:428
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Wrinkly Skin Syndrome
Low-set ears, Osteopenia, Abnormal cheek morphology, Carious teeth, Broad nasal tip, Delayed erup... ORPHA:2834
Poems Syndrome
Ascites, Pleural effusion, Plethora, Pulmonary arterial hypertension, Pericardial effusion, Acroc... ORPHA:2905
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hearing impairment, Widely spaced teeth, Gingival overgrowth, Microdon... OMIM:301072
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Aicardi Syndrome
Block vertebrae, Cleft upper lip, Anteverted nares, Prominence of the premaxilla, Missing ribs, S... OMIM:304050
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Hypospadias, Short thumb, Clinodactyly, Abnormal heart mor... ORPHA:1708
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism, 2-3 finger syndactyly, Subvalvular aortic stenosis, Patent d... ORPHA:1338
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Axenfe... ORPHA:2152
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Thin upper lip vermilion, Talipes equinovarus, Glossitis, Megaloblastic ... OMIM:277380
Mucopolysaccharidosis, Type Iiid
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Hearing impai... OMIM:252940
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Depressed nasal bridge, Macroglossia, Increased density of long bones, Midface retr... OMIM:269150
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Ventricular septal defect, Abnormality of the anterior pituitary, Atrial septal de... ORPHA:75389
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Dravet Syndrome
Cyanotic episode ORPHA:33069
Multiple Sulfatase Deficiency
Splenomegaly, Broad thumb, Broad hallux, Corneal opacity OMIM:272200
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... OMIM:614170
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hyp... OMIM:166200
Leber Optic Atrophy
Arrhythmia OMIM:535000
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Retrognathia, Long philtrum, Anterior polar cataract, Left ventricular hypertrophy, Atrial septal... OMIM:620510
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open ... ORPHA:261537
Revesz Syndrome
Aplastic anemia, Oral leukoplakia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia OMIM:268130
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Thickened ribs... OMIM:252900
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Abn... ORPHA:1422
Neurofaciodigitorenal Syndrome
Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Atresia of the exter... ORPHA:2673
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Yellow Fever
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemes... ORPHA:99829
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Sickle Cell Disease
Cholelithiasis, Priapism, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypertension OMIM:603903
Dermatomyositis
Cellulitis, Vasculitis, Abnormal eosinophil morphology, Chondrocalcinosis, Sinus tachycardia, Hel... ORPHA:221
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Diamond-Blackfan Anemia 10
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:613309
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... OMIM:609192
Legius Syndrome
Cataract, Male urethral meatus stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia, Ov... ORPHA:137605
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Postnatal macrocephaly, Persistence of primary teeth, Decreased skull ossification... ORPHA:93325
Joubert Syndrome 33
Syndactyly OMIM:617767
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Atrial septal defect, Camptodactyly, High palate, Patent ductu... OMIM:614846
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Small thenar eminence, Atrial septal def... OMIM:613458
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Failure of eruption of permanent teeth, Triangular ... ORPHA:2896
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... ORPHA:1860
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Inguinal hernia, Ventricular septal defect, Smooth p... ORPHA:261190
Chand Syndrome
Short fifth metatarsal, Imperforate hymen, Agenesis of permanent teeth, Abnormal oral frenulum mo... ORPHA:1401
Congenital Disorder Of Deglycosylation 1
Small hand, Anhidrosis, Open mouth, Single transverse palmar crease, Intrinsic hand muscle atroph... OMIM:615273
Seckel Syndrome 9
Clitoral hypertrophy, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, T... OMIM:616777
Meckel Syndrome, Type 7
Aortic valve stenosis, Postaxial foot polydactyly, Hepatosplenomegaly, Portal hypertension, Ingui... OMIM:267010
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Cleft lip, Recurrent otitis media, Broad ribs, Macrocephaly, Open mouth, ... OMIM:301066
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancr... OMIM:260400
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Protrusio acetabuli, Coxa vara OMIM:610968
Radio-Renal Syndrome
High, narrow palate, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Micrognat... ORPHA:3015
Septopreoptic Holoprosencephaly
Microcephaly, Abnormal rib morphology ORPHA:280195
Knobloch Syndrome 2
Anterior cortical cataract, Micrognathia, Enamel hypoplasia, Patent ductus arteriosus OMIM:618458
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Sia... ORPHA:449395
Microphthalmia/Coloboma 9
Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma OMIM:615145
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Preaxial hand polydactyly, Micrognathia, Malar flattening, Ventricular septal def... OMIM:610536
Leptospirosis
Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Chorioretinitis, Rhabdomyolysis, Skin rash... ORPHA:509
Nicolaides-Baraitser Syndrome
Broad 2nd toe, Short lingual frenulum, Cryptorchidism, Everted lower lip vermilion, Short metacar... OMIM:601358
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Tooth malposition, Small hand, Overlapping toe, Atrial septal defect, High palate, Short foot, Pa... ORPHA:480880
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Microcephaly, Flexion contracture, Narrow mouth OMIM:614833
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Apnea, Cyanosis ORPHA:268943
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Myopathy ORPHA:257
Esophageal Atresia
Respiratory distress, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Episodic respirat... ORPHA:1199
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Xylt1-Cdg
Long philtrum, Broad ribs, Joint hypermobility, Short clavicles, Microcephaly, Thick vermilion bo... ORPHA:370930
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Broad philtrum, Wide mouth, S... ORPHA:1942
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Atrial septal defect, H... OMIM:611961
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Absent earlobe, Downturned corn... OMIM:264090
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Cleft upper lip, Acetabular d... OMIM:201180
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Isc... OMIM:175780
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectovaginal ... ORPHA:2753
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate OMIM:617337
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Xeroderma Pigmentosum
Craniofacial hyperostosis, Abnormality of the dentition, Cataract, Keratitis, Pterygium, Hypogona... ORPHA:910
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Finger syndactyly ORPHA:1514
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Partial atrioventricular canal defect, Cyanosis OMIM:620423
Agel Amyloidosis
Cataract, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Kerat... ORPHA:85448
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Supernumerary ribs, Hypodontia, Eosinophil... OMIM:308300
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Splenomegaly, Lipodystrophy, Atrial septal defect, Pericardial effusion, Wide mout... OMIM:608776
Osteogenesis Imperfecta, Type Xv
Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility OMIM:615220
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Long philtrum, Limited elbow fl... OMIM:258315
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve... ORPHA:453504
Acute Intermittent Porphyria
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension ORPHA:79276
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the ... OMIM:135900
16P13.11 Microdeletion Syndrome
Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Ventricular... ORPHA:261236
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Atrial septal defect, Facial hy... OMIM:611087
Cerebrocostomandibular Syndrome
Posterior rib gap, Conductive hearing impairment, Atresia of the external auditory canal, Tracheo... ORPHA:1393
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Recurrent upper respiratory tract infections, Midface retrusion, Delayed eruptio... ORPHA:508542
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Absence of Stensen duct, Hypoplasia of... OMIM:604292
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Distal ulnar epiphyseal stippling, Delayed ossification of carpal bones, Sensorineur... OMIM:609616
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Rodrigues Blindness
Sclerocornea, Tooth malposition, Microcornea OMIM:268320
Craniofrontonasal Syndrome
Axillary pterygium, Abnormality of the dentition, Toe syndactyly, 3-4 finger syndactyly, Broad ha... OMIM:304110
Shashi-Pena Syndrome
Retrognathia, Thin upper lip vermilion, Deep palmar crease, Patent ductus arteriosus, Limb hypert... OMIM:617190
Pierson Syndrome
Cataract, Skeletal muscle atrophy, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypop... OMIM:609049
Adnp Syndrome
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Thick lower l... ORPHA:404448
Thanatophoric Dysplasia Type 2
Micromelia, Brachydactyly, Atrial septal defect, Abnormal metaphysis morphology, Patent ductus ar... ORPHA:93274
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, H... ORPHA:99931
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Superficial Siderosis
Subarachnoid hemorrhage, Anisocoria, Internal hemorrhage, Lower limb muscle weakness ORPHA:247245
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Synostosis of carpal bones, Camptodactyly of finger, Abnormal rib morphology ORPHA:1836
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent otitis media, Open mouth, Cryptorchidism, Hand muscle atrophy, Ventricular septal defec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent otitis media, Open mouth, Cryptorchidism, Hand muscle atrophy, Ventricular septal defec... ORPHA:363958
Mirizzi Syndrome
Tachycardia ORPHA:521219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelvis, Ear... OMIM:208500
Nocardiosis
Cellulitis, Pneumonia, Keratitis, Lymphadenitis, Cutaneous abscess, Abnormal heart valve morpholo... ORPHA:31204
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Preauricular skin tag, Retrognathia, Bulbous nose, Sensorineural hearing impairment, Rib fusion, ... ORPHA:544488
Granulomatous Disease, Chronic, X-Linked
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:306400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased fertility, Shock, Decreased testicular size, Hypogonadotropic hyp... ORPHA:90794
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Macrocephaly ORPHA:199276
Kikuchi-Fujimoto Disease
Vasculitis, Leukopenia, Malar rash, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Skin ... ORPHA:50918
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Abnormal heart morphology, Furrowed tongue, Atrioventri... ORPHA:453499
Coffin-Siris Syndrome 4
Short 5th finger, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, Mitral a... OMIM:614609
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Cleft palate, Abnormal rib morphology ORPHA:1318
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ... ORPHA:268261
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Abnormal cornea morphology, Situs inversus totalis, Male infertility OMIM:244400
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Bardet-Biedl Syndrome 6
External genital hypoplasia, Postaxial polydactyly, Vaginal atresia, Hypospadias, Syndactyly OMIM:605231
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythmia, Hypopa... ORPHA:231226
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Tented philtrum, Long philtrum, Micrognathia, Absent scrotum, Cryptorchidism, Hypoplastic labia m... ORPHA:495875
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the... ORPHA:2538
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditi... ORPHA:67
Renpenning Syndrome 1
Joint contracture of the hand, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial sept... OMIM:309500
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... ORPHA:93259
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Ulnar deviation of finger, Clinodactyly, Sandal ga... OMIM:618164
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Iris atrophy, Hypohidrosis, Orthostatic hypotension, Anhidrosis, Impotence OMIM:146500
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Ascites, Left ventricular systolic dysfunction, Tr... ORPHA:51608
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Autoimmune Polyendocrinopathy Type 1
Cataract, Increased circulating cortisol level, Chronic mucocutaneous candidiasis, Primary adrena... ORPHA:3453
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... OMIM:618748
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Short distal phalanx of finger, Long philtrum, Micrognathia, Open mout... OMIM:614080
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion, Vertebral fusion, Block vertebrae OMIM:277300
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... ORPHA:65681
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Arm dystonia, Wolff-Parkinson-White syndrome OMIM:601338
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Slender finger, Cataract, Hypoplasia of the iris, ... OMIM:251300
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Coats Disease
Leukocoria, Retinal telangiectasia OMIM:300216
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly, Impotence OMIM:268800
Meckel Syndrome, Type 4
Ventricular septal defect, Bowing of the long bones, Atrial septal defect, Postaxial hand polydac... OMIM:611134
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, 2-3 toe syndactyly, T... OMIM:620025
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Short toe, Umbilical hernia, Atrophic scars, Recurrent mandibular subluxations... OMIM:225410
Townes-Brocks Syndrome 1
Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second metacarpal, Cryptorchidism, Ventri... OMIM:107480
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Neutropenia, Thrombocytopenia, Anemia, High palate, Syndactyly OMIM:614520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Thin ribs, Wide nasal bridge, Coronal craniosynostosis, Retrognathia, Underdevelope... ORPHA:83617
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Hypoplasia of the iris, Male pseudohermaphroditism, Brachydactyly, Short phalanx of f... OMIM:600092
Severe Congenital Nemaline Myopathy
Low-set ears, Thin ribs, Abnormal thorax morphology, Multiple prenatal fractures, Flexion contrac... ORPHA:171430
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... ORPHA:26791
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Facial palsy, Mitral regurgitation, Camptodactyly of finger ORPHA:261349
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... OMIM:228900
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Conductive hea... ORPHA:264450
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Retinoblastoma
Pinealoma, Leukocoria, Vitreous hemorrhage, Leukemia, Cleft palate OMIM:180200
Cantu Syndrome
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... OMIM:239850
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Recurrent... OMIM:309800
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Aspiration pneumonia, Smooth philtrum, Intraventricular hemorrhage, Syndactyly OMIM:616430
Neu-Laxova Syndrome 2
Cataract, Toe syndactyly, Finger syndactyly, Micrognathia, High palate, Rocker bottom foot, Cleft... OMIM:616038
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Aplasia of the ovary, Impair... ORPHA:79318
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac... OMIM:617713
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia, Atrial septal defect ORPHA:51208
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Corneal perforation, Increased red blood cell count, Myocardial necrosis, Infectious e... ORPHA:68
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Micrognathia, ... ORPHA:3047
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Miller Fisher Syndrome
Mydriasis, Anisocoria, Facial palsy ORPHA:98919
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida occulta, Pectus excavatum ORPHA:64755
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Hypoperistalsis OMIM:619365
Mgat2-Cdg
Osteopenia, Arrhythmia, Hypoplastic nipples, Reflex asystolic syncope ORPHA:79329
Oculopalatocerebral Syndrome
Leukocoria, Cleft palate OMIM:257910
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Bell-shaped thorax, Missing ribs, Rib fusion, Spina bifida occulta, Short thorax... OMIM:613686
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Short lingual frenul... ORPHA:1521
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept... OMIM:301044
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short nasal sep... OMIM:113620
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Limb hypertonia, Atrial septal defect OMIM:301058
Fetal Akinesia Deformation Sequence 1
Low-set ears, Thin ribs, High, narrow palate, Congenital contracture, Arthrogryposis multiplex co... OMIM:208150
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Sprengel Deformity
Spina bifida occulta, Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Poland Syndrome
Small hand, Acute leukemia, Finger syndactyly, Congenital diaphragmatic hernia, Cryptorchidism, A... ORPHA:2911
Intestinal Botulism
Mydriasis, Xerostomia ORPHA:178481
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Impotence, Cardiomyopathy OMIM:105210
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Hypoplasia of the capital femoral epiphysis, Hypoplastic iliac wing, Irregula... OMIM:313400
Fraser Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Abnormality of the middle e... ORPHA:2052
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Small for gestational age OMIM:613320
Fetal Alcohol Syndrome
Micrognathia, Congenital diaphragmatic hernia, Microdontia, Thin upper lip vermilion, Smooth phil... ORPHA:1915
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Absent nipple, Umbilical hernia, Mitral valve prolapse, Cubitus valgu... OMIM:104350
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger ORPHA:261211
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Nephronophthisis 11
Anemia, Anisocoria OMIM:613550
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Cryptorchidism, Ventricular septal defect, Chordee, Atrial septal defect, Broad to... OMIM:619522
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Ventricular se... OMIM:619475
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Enamel hypomineralization, Subvalvular aortic stenosis, Hypovolemia ORPHA:47159
Beta-Thalassemia Major
Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythmia, Hypopa... ORPHA:231214
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Dilatation of the ventricular cavity, Narrow mouth, Cryptorchidism, Ventricular s... ORPHA:459070
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Keratitis, Eczematoid dermatitis, Ectrodactyly, Umbilical hernia, Recurrent skin inf... OMIM:308205
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Micrognathia, Enlarged labia minora, Patellar aplasia, Hip c... OMIM:606170
Microphthalmia, Syndromic 3
Cataract, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Sclerocornea,... OMIM:206900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Single naris, Su... ORPHA:2250
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Septic arthritis, Leukocytosis, Hypertension, Pancreatitis, Throm... ORPHA:544482
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Brachyda... OMIM:613195
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Small scrotum, Cleft... OMIM:119500
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis ORPHA:3353
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Depressed nasal bridge, Short ribs, Decreased calvarial ossification, Shor... OMIM:620076
14Q22Q23 Microdeletion Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Short 5th metacarp... ORPHA:264200
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Wolcott-Rallison Syndrome
Central hypothyroidism, Exocrine pancreatic insufficiency, Iron deficiency anemia, Hypothyroidism... ORPHA:1667
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Mandibular prognathia, Long philtrum, Micrognathia, Narrow mouth, Cry... OMIM:619512
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Long philtrum, Broad ribs, Limited elbow extensi... OMIM:304150
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosions, Arrhythmia, Conjuncti... OMIM:153400
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Dyggve-Melchior-Clausen Disease
Pectus carinatum, Recurrent upper respiratory tract infections, Broad ribs, Limited elbow extensi... ORPHA:239
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee... OMIM:608836
Phace Syndrome
Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia iridis, Hypothyroidism, A... ORPHA:42775
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Atrial septal defect OMIM:620211
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... OMIM:267750
Bickerstaff Brainstem Encephalitis
Pneumonia, Mydriasis, Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Fac... ORPHA:79138
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Acrorenal-Mandibular Syndrome
Low-set ears, Thin ribs, Narrow palate, Hypoplastic scapulae, Narrow chest, Elbow flexion contrac... OMIM:200980
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia OMIM:619482
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Hyperostosis, Hypoplasi... ORPHA:906
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Craniometaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... ORPHA:1522
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Short foo... ORPHA:93260
Inhalational Botulism
Mydriasis, Xerostomia ORPHA:254504
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time OMIM:166220
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Broad hallux, Microretrognathia, Preaxial polydactyly, Hamartoma of tongu... OMIM:615948
Choroidal Atrophy-Alopecia Syndrome
Glue ear, Finger syndactyly, Supernumerary nipple ORPHA:1433
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Short femoral neck, Short palm, Opacification of the corneal stroma OMIM:184095
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Anemia, Short phalanx of finger, Hypertension, Myocardial infarction OMIM:208060
Arachnoid Cyst
Subarachnoid hemorrhage, Mydriasis, Facial palsy, Lower limb muscle weakness ORPHA:2356
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Irregular tarsal ossification, Gingival overgrowth, Subepithelial cor... OMIM:221800
Kindler Syndrome
Symblepharon, Carious teeth, Periodontitis, Oral leukoplakia, Phimosis, Telangiectasia of the ski... OMIM:173650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Mitral stenosis, Submucous cleft hard... OMIM:617660
Takenouchi-Kosaki Syndrome
Lymphedema, Abnormal cardiac septum morphology, Camptodactyly, Patent ductus arteriosus, Pulmonic... OMIM:616737
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Conductive hearing impairment, Recurrent otitis media, Short ribs, Joint hype... OMIM:250420
Gracile Bone Dysplasia
Thin ribs, Ankyloglossia, Decreased skull ossification OMIM:602361
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Long philtrum, Open bite, Micrognathia, Down-sloping shoulders, Deep philtrum,... ORPHA:1974
Sotos Syndrome
Decreased fertility, Cryptorchidism, Hip contracture, Ventricular septal defect, Talipes equinova... ORPHA:821
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Atrial septal defect, Inguinal hernia OMIM:619115
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, Micrognathia, Narrow... OMIM:300868
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Mydriasis, Pyelonephritis, Peritonitis, Elevated pulmonary artery pressure, ... OMIM:619351
Ramon Syndrome
Delayed eruption of teeth, Hearing impairment, Juvenile rheumatoid arthritis, Narrow palate, Ging... OMIM:266270
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger ORPHA:2135
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Ulbright-Hodes Syndrome
Low-set ears, Thin ribs, Depressed nasal bridge, Micrognathia, Narrow mouth, Humeroradial synosto... ORPHA:3404
Facial Spasm
Anisocoria OMIM:134300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Tented upper lip vermilion, Atrial septal defect, Shortening of all distal phalange... OMIM:614749
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal dysplasia, Genu varum, Multiple joint contractures, Thin vermilion border, Short phal... ORPHA:99646
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Thick vermilion bord... ORPHA:79280
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Long philtrum, Short phalanx of finger, Short long bone, Hypopla... OMIM:258480
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Irregular chondrocostal junctions, Horizontal ribs, Short ribs OMIM:187760
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped tragus, Underdeveloped an... ORPHA:2036
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Delayed ossification of carpal bones, Joint hypermobility OMIM:618395
Kabuki Syndrome 1
Short 5th finger, Congenital hip dislocation, Abnormality of the dentition, Recurrent aspiration ... OMIM:147920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Adult Syndrome
Abnormality of the dentition, Toe syndactyly, Absent nipple, Finger syndactyly, Abnormal dental m... ORPHA:978
Gm1-Gangliosidosis, Type I
Depressed nasal ridge, Joint stiffness, Gingival overgrowth, Thickened ribs OMIM:230500
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Lymphedema-Distichiasis Syndrome
Cataract, Arrhythmia, Conjunctivitis, Diabetes mellitus, Corneal erosion ORPHA:33001
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... OMIM:245150
Malakoplakia
Inflammatory abnormality of the skin, Abnormality of the menstrual cycle, Skin rash, Orchitis, Pr... ORPHA:556
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... OMIM:181450
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I... ORPHA:48435
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Astigmatism OMIM:248190
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Arrhythmia, Arthrogryposis multiplex congenita, Heterochromia iridis ORPHA:163746
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd... OMIM:603671
Myasthenia Gravis
Myositis, Acrocyanosis, Raynaud phenomenon ORPHA:589
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Diphallia
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Ectopic scrotum, Cryptorchid... ORPHA:227
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White ... OMIM:613254
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... ORPHA:2968
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Congenital diaphragmati... OMIM:616546
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Atrial septal defect, Shortening of all distal phalanges of the finge... OMIM:614207
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Depressed nasal bridge, Narrow chest, Horizontal ribs, Short ribs, Median cleft upp... OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 54
Midface retrusion, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Micro... OMIM:617799
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Arterial rupture, Blepharochalasis, Mitral regurgita... ORPHA:287
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Cardiomyopathy, Heart block ORPHA:228308
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Micr... ORPHA:2166
Costello Syndrome
Thick lower lip vermilion, Hypertrophic cardiomyopathy, Micrognathia, Mitral valve prolapse, Limi... OMIM:218040
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium ORPHA:96168
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Depressed nasal bridge, Midface retrusion, Thoracic hypoplasia, Limited e... OMIM:618019
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydacty... ORPHA:2211
Brittle Cornea Syndrome
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Neoplasm of the gallbladder, Pituitar... ORPHA:733
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Glandular hypospadias OMIM:620306
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent upper respiratory tract infections, Persistence of primary teeth, Joint hyp... OMIM:147060
Familial Adenomatous Polyposis 1
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth OMIM:175100
Alagille Syndrome 1
Short distal phalanx of finger, Microcornea, Cataract, Band keratopathy, Exocrine pancreatic insu... OMIM:118450
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Monosomy 13Q14
Cataract, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinod... ORPHA:1587
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma OMIM:256540
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia, Retrognathia, Thrombocytopenia ORPHA:457351
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Lymphatic Malformation 6
Cellulitis, Micrognathia, Splenomegaly, Hypothyroidism, Atrial septal defect, Hydrocele testis OMIM:616843
Wilson Disease
Sunflower cataract, Chondrocalcinosis, Kayser-Fleischer ring, Limb muscle weakness, Splenomegaly,... OMIM:277900
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Neonatal death, Hepatomegaly OMIM:608013
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Osteopetrosis, Incre... OMIM:612301
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Ventricular sep... OMIM:610978
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Myopathy, Rhabdomyolysis, Cardiomyopathy ORPHA:157
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Cataract, Choroidal neovascularization, Posterior synechia... ORPHA:91500
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Corneal opacity OMIM:120200
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Generalized limb muscle atrophy, Submucous cleft hard palate, Chordee, Atrial septal defect, Flex... OMIM:618891
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Macrocephaly at birth ORPHA:169189
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Polysplenia, Portal hypertension, Splenomegaly, Situs inversus totalis, Hy... OMIM:208540
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cutis marmorata, Multiple joint contractures, Cardiomegaly, Myositis... ORPHA:51
1P36 Deletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Conductive hearing impairment, ... ORPHA:1606
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse vaginal sept... OMIM:236700
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Lymphopenia, Constr... ORPHA:90363
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Iris coloboma, Atrial septal defect, Chorioretinal coloboma OMIM:615219
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Depressed nasal bridge, Osteopenia, Dental crowding, Joint hypermobility, Osteoporosis OMIM:225400
Fanconi Anemia, Complementation Group N
Aplastic anemia, Absent thumb, Short thumb, Ventricular septal defect, Acute myeloid leukemia, Hy... OMIM:610832
Constricting Bands, Congenital
Cleft upper lip, Talipes equinovarus, Hand polydactyly, Omphalocele, Ectopia cordis, Cleft palate... OMIM:217100
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, Thin upper lip vermilion, 2-3 toe syndactyly, Smooth philtrum, Progressive fle... ORPHA:522077
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Short ribs, Cupped ribs, Pectus excavatum, Relative macrocephaly,... OMIM:607778
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Wide nasal bridge, Narrow palate, Pectus carinatum, Broad clavicles, Long ear, Broa... OMIM:276820
Cystic Fibrosis
Cor pulmonale, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Male infertility OMIM:219700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Bifid uvula, Small scrotum, Recurrent pneumonia, Sandal gap, Long philtrum, Umb... OMIM:620330
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Abnormal cardiac septum morphology, Patent ductus arteriosus... ORPHA:3338
Gardner Syndrome
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma ORPHA:79665
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature ORPHA:3063
Cystinosis, Nephropathic
Male hypogonadism, Growth delay, Failure to thrive, Failure to thrive in infancy, Primary hypothy... OMIM:219800
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epidi... OMIM:620376
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Abnormal mitral valve morphology, Short hard palate, ... ORPHA:1969
Fraser Syndrome 3
Small scrotum, Short toe, Micrognathia, Cutaneous syndactyly, Hypoplasia of penis OMIM:617667
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility ORPHA:586
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Cleft upper lip, Hamartoma of tongue, Horizontal ribs, Short ribs, Bifid ton... OMIM:613091
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... OMIM:258900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Cataract, Erysipelas, Long philtrum, Atrial septal defect, Thick vermilion border, Le... ORPHA:2526
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Hypermobile Ehlers-Danlos Syndrome
Menometrorrhagia, Epistaxis, Keratoconus, Cystocele, Decreased fertility, Mitral valve prolapse, ... ORPHA:285
Dihydropyrimidinase Deficiency
Talipes equinovarus, Short phalanx of finger OMIM:222748
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Short ribs, Rib fusion, Missing ribs, Vertebral fusion OMIM:271520
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Radioulnar syn... OMIM:192350
Holoprosencephaly 2
Bifid uvula, Midface retrusion, Proboscis, Median cleft palate, Malar flattening, Submucous cleft... OMIM:157170
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Osteoporosis-Pseudoglioma Syndrome
Cataract, Tibial bowing, Iris atrophy, Ventricular septal defect, Absent anterior chamber of the ... OMIM:259770
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Obesity, Large for gest... ORPHA:116
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Fraser Syndrome 2
Hypoplasia of the thymus, Ambiguous genitalia, Cutaneous syndactyly, Narrow mouth OMIM:617666
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Ventri... OMIM:620558
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive OMIM:230000
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Abetalipoproteinemia
Failure to thrive, Congestive heart failure, Cardiomegaly, Hypothyroidism, Hepatomegaly ORPHA:14
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Atrial septal defect ORPHA:93947
Pontine Tegmental Cap Dysplasia
Rib fusion, Sensorineural hearing impairment OMIM:614688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Muscular dystrophy, Megalocornea, Micrognathia, Malar flattening, Everted lower lip ver... OMIM:253280
Goodpasture Syndrome
Tachypnea, Cyanosis, Pulmonary hemorrhage OMIM:233450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:618278
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Mitral regurgitation OMIM:303600
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Pulmonary arterial hype... ORPHA:97685
Penile Agenesis
Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Bilateral t... ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Decreased testicular size, Muscular dystrophy, Opacification of the corneal stroma OMIM:615287
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Flexion contracture of finger ORPHA:1010

Histopathology

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

There is no histopathology data for Gja1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gja1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets. Blood (February 2021) Gja10em2(IMPC)Mbp PMC7885822

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gja1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gja1em1(IMPC)Ccpcz Intra-exon deletion Mice, Tissue

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