banner
Genes Phenotypes Help, News, Blog

Gene: Dsp MGI:109611

Log in to follow

Gene Summary

Name:
desmoplakin
Synonyms:
5730453H04Rik,  2300002E22Rik,  rul,  DP

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dspem1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
enlarged lymph nodes Dspem1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal neural tube closure Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal lymph node morphology Dspem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Dspem1(IMPC)Mbp HET E9.5 0.00
abnormal neural tube morphology Dspem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Dspem1(IMPC)Mbp HET E15.5 0.00
prenatal lethality prior to heart atrial septation Dspem1(IMPC)Mbp HOM   E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carvajal Syndrome
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Woolly hair, Congestive heart failure ORPHA:65282
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Abnormality of the nail, Palmoplantar keratoderma ORPHA:50942
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Palmoplantar keratoderma, Woolly hair, Ventricular tachycardia, Congestiv... OMIM:605676
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Leukonychia, Palmoplantar keratoderma, Woolly hair, Parakeratosis, Tooth ... OMIM:615821
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Absent fingernail, Absent eyelashes, Absent... ORPHA:158687
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse eyebrow, Acantholysis, Nail dyst... OMIM:607655
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Acantholysis, Anonychia, Natal tooth, Alopecia universalis, Alopecia totalis OMIM:609638
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Palmoplantar keratoderma ORPHA:154
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma OMIM:612908
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency ORPHA:2032

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Palmoplantar keratoderma, Woolly hair, Sudden cardiac death, Ventricular arrhythmia, Syncope, Pal... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Microdontia, Sparse body hair, Ab... ORPHA:2722
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Witkop Syndrome
Small nail, Agenesis of permanent teeth, Fine hair, Nail pits, Microdontia of primary teeth, Spar... OMIM:189500
Naxos Disease
Palmoplantar keratoderma, Cleft upper lip, Paroxysmal ventricular tachycardia, Arrhythmia, Conges... ORPHA:34217
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Carvajal Syndrome
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Woolly hair, Congestive heart failure ORPHA:65282
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Naxos Disease
Woolly hair, Premature ventricular contraction, Abnormal morphology of right ventricular trabecul... OMIM:601214
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Abnormality of the nail, Palmoplantar keratoderma ORPHA:50942
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Palmoplantar keratoderma, Woolly hair, Ventricular tachycardia, Congestiv... OMIM:605676
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Arrhythmia, Abnormal hair morphology, Sparse pubic hair, Absent eyebrow,... ORPHA:1808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia OMIM:246500
Hypotrichosis 1
Sparse eyebrow, Sparse body hair, Sparse pubic hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Leukonychia, Palmoplantar keratoderma, Woolly hair, Parakeratosis, Tooth ... OMIM:615821
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, A... ORPHA:189
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Nathalie Syndrome
Arrhythmia ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Agenesis of permanent teeth, Alopecia OMIM:212835
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Hypotrichosis 10
Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Agenesis of permanent teeth, Delayed eruption of teeth, Thin toenail, Hy... ORPHA:2228
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Kerion Celsi
Lymphadenopathy ORPHA:499
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Abnormal dental e... ORPHA:2889
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Fine hair, Fragile nails ORPHA:500166
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Cleft upper lip, Hypodontia, Nail dysplasia, Sparse eyebrow, Abnormality of the phi... OMIM:225060
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Thin upper lip vermilion, Microdontia, Prolonged QT in... OMIM:601005
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Dystrophic toenail, Sparse body hair, Onychogryposis of toen... OMIM:617294
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Absent eyelashes, Nail dysplasia, Absent hair, Nail dystrophy, Sparse hair, Concave nail OMIM:614931
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Monilethrix
Brittle hair, Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Abnormality of hair ... OMIM:158000
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Conical tooth, Enamel... OMIM:613573
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Long philtrum, Thick eyebrow, Thin upper lip vermilion, Sparse hair OMIM:606242
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypodontia, Sparse eyebrow, Nail dysplasia, Fine hair, Slow-growing hair, Microdontia, Abnormalit... OMIM:129490
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy OMIM:619048
Oculotrichodysplasia
Agenesis of permanent teeth, Widely spaced primary teeth, Sparse lateral eyebrow, Nail dysplasia,... OMIM:257960
Tooth Agenesis, Selective, 8
Microdontia, Sparse hair, Sparse eyebrow, Selective tooth agenesis OMIM:617073
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse eyelashes, Ventricular septal defect, Abnormality of... OMIM:616901
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Schöpf-Schulz-Passarge Syndrome
Premature loss of primary teeth, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow, Hyp... ORPHA:50944
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Aplasia/Hypoplasia of the eyebrow, Microdontia, Everted lower lip verm... ORPHA:181
Filippi Syndrome
Short philtrum, Frontal hirsutism, Hypodontia, Microdontia, Abnormality of dental morphology, Ven... OMIM:272440
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Enamel hypoplasia, Follicular hyperkeratosis,... OMIM:613576
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormal hair morphology, Abnormal toenail morphology, Fine hair... ORPHA:248
Palmoplantar Keratoderma And Woolly Hair
Palmoplantar keratoderma, Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse... OMIM:616099
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Everted lower lip vermilion, Woolly hair OMIM:278200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Long philtrum, Thick lower lip vermilion, Atrioventricular block, Bradycardia OMIM:614407
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Schopf-Schulz-Passarge Syndrome
Small nail, Palmoplantar keratoderma, Apocrine hidrocystoma, Narrow nail, Hypodontia, Sparse hair... OMIM:224750
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Microdontia, Hypodontia, Fine hair ORPHA:1174
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Arrhythmia, Abnormal left ventricular function, Congestive heart failure,... OMIM:615373
Trichodental Dysplasia
Brittle hair, Conical tooth, Odontodysplasia, Hypodontia, Fine hair, Slow-growing hair, Sparse hair OMIM:601453
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Everted lower lip vermilion, Onychogryposis of fingernail, Abnormality ... ORPHA:2251
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hyperkeratosis, Ventricular... OMIM:615279
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Alopecia totalis, Bradycardia, Persistent... OMIM:618775
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Coffin-Siris Syndrome 3
Long eyelashes, Thick eyebrow, Sparse scalp hair, Macroglossia, Abnormal heart morphology, Delaye... OMIM:614608
Cardiofaciocutaneous Syndrome 2
High palate, Fine hair, Absent eyebrow, Curly hair, Sparse hair, Mitral valve prolapse OMIM:615278
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Absent eyelashes, Absent eyebrow, Nail dystrophy, Thin nail, Hyperkeratosis, Spars... OMIM:618625
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Cleft upper lip, Arrhythmia, Hypoplastic nipples, Abnormality of the dentition, Spars... OMIM:273400
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Absent fingernail, Absent eyelashes, Absent... ORPHA:158687
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Syndromic X-Linked Intellectual Disability 7
Abnormality of dental morphology, Sparse body hair, Tooth malposition ORPHA:85274
Hypotrichosis 6
Brittle hair, Pili torti, Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Sparse hair OMIM:607903
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Palmoplantar keratoderma, Absent eyelashes, Congenital onychodystrophy, Sparse body... ORPHA:2890
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Thick upper lip vermilion, Low anterior hairline, Disti... ORPHA:79133
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse ... OMIM:129500
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Hypodontia, Sparse scalp hair, Conical incisor, Brittle sc... OMIM:262020
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Abnormal atrioventricular valve physiology, Elevated jugu... ORPHA:1329
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Rosselli-Gulienetti Syndrome
Cleft upper lip, Hypodontia, Nail dysplasia, Sparse eyebrow, Abnormality of the philtrum, Microdo... OMIM:225000
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Palmoplantar keratoderma, Epidermal hyperkeratosis, Nail dysplasia, Sparse eyebrow,... OMIM:104100
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Telangiectasia, Protruding tongue, Generalized hypertric... ORPHA:93400
Noonan Syndrome 5
Small nail, Arrhythmia, Atrial septal defect, Hypertrophic cardiomyopathy, Sparse eyebrow, Fine h... OMIM:611553
Mcdonough Syndrome
Short philtrum, Dental malocclusion, Hypoplastic toenails, Atrial septal defect, Pulmonic stenosi... OMIM:248950
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Abnormality of the dentition, Sparse hair OMIM:129810
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure OMIM:601493
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Focal Facial Dermal Dysplasia 3, Setleis Type
Thick upper lip vermilion, Absent lower eyelashes, Anal atresia, Low anterior hairline, Distichia... OMIM:227260
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Carious teeth, Alopecia, Nail dystrophy OMIM:616353
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypodontia, Sparse body hair, Abnormality of dental morphology, ... ORPHA:1810
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Lambert Syndrome
Branchial anomaly ORPHA:1296
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse eyebrow, Acantholysis, Nail dyst... OMIM:607655
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:613424
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sinus bradycardia, Pili torti, Sparse lateral eyebrow, Microdontia, Trichorrhexis nod... OMIM:261990
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Nail dysplasia, Hypoplasia of teeth, Trichorrhexis nodosa,... OMIM:234050
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Cardiomy... OMIM:212138
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Brittle hair, Tiger tail banding OMIM:618546
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Acantholysis, Pulmonic stenosis, Ventricular septal def... OMIM:615508
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Pili torti, Fine hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Prolonged QT interval, Atrial fibrillation, Pyloric stenosis, Bradycardia, Tachycardia, Hi... OMIM:613327
Lessel-Kubisch Syndrome
Premature graying of hair, Narrow mouth, Hypertension, Sparse pubic hair OMIM:618681
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Distichiasis OMIM:126320
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Alopecia, Long eyelashes OMIM:275400
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Hig... ORPHA:37553
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Olmsted Syndrome 2
Palmoplantar keratoderma, Woolly hair, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis... OMIM:619208
Leopard Syndrome 2
Curly hair, Hypertrophic cardiomyopathy, Thick lower lip vermilion OMIM:611554
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Conotruncal defect, Third degree atrioventricular block, Atriov... ORPHA:40366
Eem Syndrome
Carious teeth, Widely spaced teeth, Sparse body hair, Microdontia, Absent eyebrow, Abnormality of... ORPHA:1897
Cardiofaciocutaneous Syndrome 4
Palmoplantar hyperkeratosis, Abnormal aortic valve morphology, Pulmonic stenosis, Sparse hair, Ab... OMIM:615280
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Hypoplastic toenails, Everted lower lip vermilion, Fine hair, Onycholy... ORPHA:1028
Al Amyloidosis
Increased circulating troponin I concentration, Abnormal salivary gland morphology, Monoclonal li... ORPHA:85443
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Oligodontia, Scarring alopecia of scalp, Sparse eyebrow, Hypodontia, Sparse ... ORPHA:59303
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Costello Syndrome
Narrow palate, Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Hypertrophic cardiomy... ORPHA:3071
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Arrhythmia OMIM:614676
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Sparse hair, Abnormality of the dentition, Uncombable hair ORPHA:1264
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Onychogryposis of fingernail, Angular cheilitis, Palm... ORPHA:2309
Dwarfism, Familial, With Muscle Spasms
Fine hair, Brittle scalp hair, Sparse scalp hair OMIM:600771
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Absent facial hair, Sparse facial hair, Mitral valve prolapse, Low posterior... ORPHA:2183
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Noonan Syndrome 8
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hyperkeratosis, Ventricular... OMIM:615355
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Smooth tongue, Orthokeratosis, Abnormality of primary teeth, Hypodon... OMIM:257980
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Sparse eyebrow, Sparse body hair, Angular cheilitis, Sparse eyelashes,... OMIM:613102
Idiopathic Congenital Hypothyroidism
Bradycardia, Macroglossia ORPHA:95717
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Supernumerary nipple, Nail dysplasia, Abnormal toenail morphology, Sparse body ... ORPHA:1809
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Sparse hair, Long philtrum, Alopecia OMIM:617763
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis, Sparse hair, Dry hair OMIM:164680
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Sparse eyebrow, Hyperkeratosis, Curly hair, Sparse hair OMIM:602400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Brittle hair, Patent foramen ovale, Arrhythmia, Enamel hypoplasia, Atrial ... OMIM:619184
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Abnor... ORPHA:181393
Mucopolysaccharidosis, Type Iiib
Coarse hair, Asymmetric septal hypertrophy, Synophrys, Cardiomegaly, Hirsutism OMIM:252920
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Carious teeth, Hyperkeratosis, Sparse hair ORPHA:1883
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Colitis, Sparse hair, Trichorrhexis nodosa, Pili canaliculi, Villous a... OMIM:614602
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Fine hair, Hyperkeratosis, Furrowed tongue, Alopecia, Sparse hair, Gin... ORPHA:1839
Ogden Syndrome
High palate, Torsade de pointes, Arrhythmia, Premature ventricular contraction, Atrial septal def... OMIM:300855
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Aplasia/Hypoplasia of the eyebrow, Fine hair, High, narrow palate,... ORPHA:276432
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... ORPHA:1880
Illum Syndrome
Bradycardia, Pierre-Robin sequence, Excessive salivation, Whistling appearance OMIM:208155
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Gand Syndrome
Short philtrum, Thin upper lip vermilion, Sparse hair, Wide mouth OMIM:615074
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Fine hair, Hyperkeratosis, Slow-growing scalp hair, Sparse scalp hair, Alopecia of... ORPHA:90368
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Absent eyelashes, Sparse hair, Absent eyebrow, Toenail dysplasia, Alopec... OMIM:607823
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Bazex Syndrome
Coarse hair, Pili torti, Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Abnormality of the... OMIM:301845
Dermoodontodysplasia
Microdontia, Sparse body hair, Toenail dysplasia, Trichodysplasia, Fingernail dysplasia, Sparse s... ORPHA:1660
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Pachyonychia Congenita 2
Palmoplantar hyperkeratosis, Nail dysplasia, Sparse eyebrow, Nail dystrophy, Natal tooth, Sparse ... OMIM:167210
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Xq27.3Q28 Duplication Syndrome
Thin vermilion border, Sparse body hair ORPHA:261483
Leopard Syndrome 3
Tetralogy of Fallot, Epidermal hyperkeratosis, Abnormal mitral valve morphology, Abnormal aortic ... OMIM:613707
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Natal tooth, Dental malocclusion, Th... OMIM:601957
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Coarse hair, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Nail... ORPHA:75389
Noonan Syndrome 6
Long eyebrows, Hypertrophic cardiomyopathy, Pulmonic stenosis, Curly hair, Sparse hair, Low poste... OMIM:613224
Progeroid Facial Appearance With Hand Anomalies
Narrow mouth, Short philtrum, Tetralogy of Fallot, Sparse hair, Thin vermilion border OMIM:602249
Olmsted Syndrome 1
Palmoplantar keratoderma, Parakeratosis, Nail dysplasia, Nail dystrophy, Alopecia universalis, Sp... OMIM:614594
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Supernumerary nipple, Nail dysplasia, Nail dystrophy, Anodontia, Sparse hair OMIM:275450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Peeling Skin Syndrome 1
Abnormality of hair texture, Brittle hair, Onycholysis OMIM:270300
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Oligodontia, Fine hair, Dental crowding, Sparse hair, T... ORPHA:251019
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Downturned corners of mouth, High, narrow palate, Wide mouth OMIM:273390
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Left ventricular hypertrop... OMIM:619040
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Dental malocclusion, Long philtrum, Sparse eyebrow, Fine hair, Ventricular septa... ORPHA:444072
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Arrhythmia, Enamel hypoplasia, Atrial septal defect, Micr... OMIM:164200
Mucopolysaccharidosis, Type Iiic
Coarse hair, Everted lower lip vermilion, Asymmetric septal hypertrophy, Synophrys, Hirsutism OMIM:252930
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Noonan Syndrome 9
Curly hair, Sparse eyebrow, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Variegate Porphyria
Tachycardia OMIM:176200
Dextrocardia
T-wave inversion, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Mec... ORPHA:1666
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, High, narrow palate, Abnormal heart morphology, Broad philtrum, Abnormal hair whorl,... ORPHA:2872
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys OMIM:252900
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Craniofrontonasal Dysplasia
Widow's peak, High palate, Woolly hair, Abnormality of hair texture, Ridged fingernail, Oral clef... ORPHA:1520
Pili Torti, Early-Onset
Brittle hair, Coarse hair, Pili torti, Enamel hypoplasia, Hair shafts flattened at irregular inte... OMIM:261900
Focal Facial Dermal Dysplasia Type Iii
Short philtrum, Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lowe... ORPHA:1807
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Long philtrum, Sparse eyebrow, Trichorrhexis nodosa, Thin upper lip vermilion, Spars... OMIM:619691
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Acrogeria
Telangiectasia of the skin, Fine hair ORPHA:2500
Hypotrichosis 12
Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Sparse or absent eyelashes, Sparse hair, Dr... OMIM:615885
Nicolaides-Baraitser Syndrome
Long philtrum, Long eyelashes, Abnormal hair pattern, Everted lower lip vermilion, Highly arched ... ORPHA:3051
Blepharocheilodontic Syndrome 1
Small nail, Cleft upper lip, Conical tooth, Hypodontia, Anal atresia, Distichiasis, High anterior... OMIM:119580
Pseudoprogeria Syndrome
Absent eyelashes, Sparse eyebrow, Absent eyebrow, Alopecia, Sparse hair ORPHA:2985
Popov-Chang syndrome
Long philtrum, Coarse hair, Pulmonic stenosis, Hyperkeratosis, Hypertension, Thin upper lip vermi... OMIM:618428
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Short philtrum, Thin upper lip vermilion, Atrial septal defect, Ventricular septal ... OMIM:617360
Weaver Syndrome
Long philtrum, Hypoplastic toenails, Deep philtrum, Fine hair, Thin nail, Deep-set nails, Abnorma... ORPHA:3447
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth, Pili canaliculi, Uncombable hair OMIM:191482
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Fine hair, Macroglossia, Abnormal eyebrow morpho... ORPHA:2221
Tonne-Kalscheuer Syndrome
Small nail, Narrow mouth, Velopharyngeal insufficiency, Fine hair, Abnormal heart morphology, Dow... OMIM:300978
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short philtrum, Long eyelashes, Fine hair, High anterior hairline, Thin upper lip vermilion, Down... ORPHA:231137
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Sparse hair, Cleft palat... OMIM:616449
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Friedreich Ataxia
Abnormal echocardiogram, Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Tongue fasciculations OMIM:608800
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Nail dysplasia, Everted lower lip vermilion, Nail dys... OMIM:242300
Even-Plus Syndrome
High palate, Patent foramen ovale, Atrial septal defect, Hypodontia, Highly arched eyebrow, Anal ... OMIM:616854
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Supravalvula... ORPHA:439232
Lelis Syndrome
Sparse lateral eyebrow, Hypodontia, Abnormal toenail morphology, Absent lower eyelashes, Sparse h... ORPHA:140936
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Long eyelashes in irregular rows, A... ORPHA:2963
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Parakeratosis, Hyperkeratosis, Abnormal heart morphology, Pro... ORPHA:398124
Glutamine Deficiency, Congenital
Bradycardia, Thin vermilion border OMIM:610015
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Palmoplantar keratoderma, Coarse hair, Hyperconvex fingernails, Non-... ORPHA:1071
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Sparse eyebrow, Sparse scalp hair, Right bundle bran... OMIM:614008
Congenital Short Bowel Syndrome
Intestinal malrotation, Sparse hair, Intestinal hypoplasia ORPHA:2301
Erythrokeratodermia Variabilis Et Progressiva 7
Palmoplantar hyperkeratosis, Dystrophic toenail, Woolly hair OMIM:619209
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Abnormal toenail morphology, Everted lower lip vermilion, Abnormal denta... ORPHA:1515
Rapp-Hodgkin Syndrome
Small nail, Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical too... OMIM:129400
Cerebellofaciodental Syndrome
Dental malocclusion, Sparse eyebrow, Fine hair, Sparse hair, Taurodontia, Macrodontia of permanen... OMIM:616202
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Brittle hair, Bifid uvula, Long eyelashes, Thick eyebrow, Open mouth, Thick lower li... OMIM:617412
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Abnormality of ... ORPHA:1006
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Enamel hypoplasia, Parakeratosis, Oligodontia, Hypodontia, Thick hair, Sparse eye... OMIM:607626
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating troponin I concentration, Left ventricular diasto... ORPHA:57777
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Intellectual Developmental Disorder, Autosomal Recessive 5
Short philtrum, Thick eyebrow, Thick upper lip vermilion, Smooth philtrum, Synophrys, Sparse hair OMIM:611091
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Drooling, Widely spaced teeth, Smooth philtrum, Synophrys, Curly hair OMIM:616351
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Narrow philtrum, Abnormal palate morphology, Multiple rows of eyelashes, Long philtrum, Thick eye... ORPHA:163654
Noonan Syndrome 14
Aortic regurgitation, Long philtrum, Hypertrophic cardiomyopathy, Sparse eyebrow, Pulmonic stenos... OMIM:619745
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypodontia, Sparse eyebrow, Everted lower lip vermilion, Microdontia, Abnormality of dental morph... OMIM:224900
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Fine hair, Intestinal obstruction, Trichorrhexis nodosa, Na... OMIM:601675
Anauxetic Dysplasia 2
Small nail, Hypodontia, Nail dysplasia, Macroglossia, Sparse hair OMIM:617396
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Sparse eyebrow, Everte... ORPHA:884
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Coarse hair, Long philtrum, Widely spaced teeth, Right bundle branch block, Slow-gro... OMIM:617506
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Alopecia, ... ORPHA:93672
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Curly hair, Abnormal esopha... OMIM:613706
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Widely spaced primary teeth, Slow-growing hair, Sparse hair, Tiger tail banding, Wi... OMIM:300953
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Abnormal oral mucosa morphology, Hypodontia, Carious teeth, Abnormality... ORPHA:659
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Macroglossia ORPHA:226313
Menkes Disease
Sparse hair, Brittle hair, Intracranial hemorrhage, Alopecia OMIM:309400
Netherton Syndrome
Brittle hair, Parakeratosis, Sparse eyebrow, Intestinal atresia, Villous atrophy, Sparse scalp ha... OMIM:256500
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Sparse eyebrow, Pulmonic stenosis, Wide mouth,... OMIM:610733
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Colon cancer, Aplasia/Hypoplasia of the eyebrow, Dystrophi... ORPHA:2930
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Pili torti, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Dystrophi... ORPHA:3253
Agel Amyloidosis
Tongue atrophy, Arrhythmia, Nail dystrophy, Cardiomyopathy, Sparse hair, Orthostatic hypotension ... ORPHA:85448