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Gene: Fkbp1a MGI:95541

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
FK506 binding protein 1a
Synonyms:
FKBP12,  Fkbp1,  Fkbp

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 Fkbp1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Fkbp1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... OMIM:255160
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ... OMIM:612937
Dpm3-Cdg
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... ORPHA:263494
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In... OMIM:300718
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Nonim... ORPHA:367
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... OMIM:619424
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... OMIM:201475
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con... OMIM:619048
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... ORPHA:171442
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Restrictive ... ORPHA:369840
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... OMIM:231530
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Respiratory arrest, Dilated cardiomyop... OMIM:600649
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... ORPHA:75249
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hype... OMIM:618815
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo... OMIM:161800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Combined Oxidative Phosphorylation Deficiency 16
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Microvesicular h... OMIM:615395
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:63273
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 17
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg... ORPHA:57777
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Hydrocephalus, Dyspl... OMIM:612863
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Dysp... ORPHA:3386
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Hydrops fetali... OMIM:269920
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrocephalus, Congestive heart failure... ORPHA:163596
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... OMIM:253300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Elevated hepatic transaminase, Dilated cardiomyopathy OMIM:619688
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Microvesicular hepatic... OMIM:611126
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... ORPHA:70591
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... OMIM:310200
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... ORPHA:860
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Acute pan... ORPHA:26791
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension... ORPHA:1349
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Restrictive ventilatory d... ORPHA:369847
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... OMIM:616974
Dk1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... ORPHA:91131
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc... OMIM:615084
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... ORPHA:1909
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... OMIM:615959
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o... ORPHA:79230
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta... OMIM:605676
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Co... ORPHA:90308
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Con... ORPHA:1194
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Abnormal bleeding, Elevated hepatic transaminase, Heart bloc... ORPHA:398124
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormal circulating enzyme concentration or ... ORPHA:132
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... OMIM:614876
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... OMIM:620300
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hepatic steatosis, Myopathy ORPHA:26792
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Dilated card... ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left... OMIM:607155
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... ORPHA:70472
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos... ORPHA:99931
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Asthma, Heart ... ORPHA:100093
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:71212
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, R... ORPHA:171445
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Respiratory insufficiency, Arthrogryposis multiplex co... OMIM:615731
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Redundant skin OMIM:301021
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Atrial septal d... ORPHA:363705
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... ORPHA:308552
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Respiratory insufficiency, Pallor, Cholelithia... ORPHA:848
Hemochromatosis, Neonatal
Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro... OMIM:231100
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... OMIM:230500
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hep... OMIM:608836
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... ORPHA:330001
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... ORPHA:3099
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Respiratory insufficiency, Cardiomyopathy, Myopathy, Suprav... OMIM:255100
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak... OMIM:606842
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Left ventricular hypertrophy, Oligohydra... OMIM:616733
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic steno... OMIM:619433
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Death in childhood OMIM:619651
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Sandhoff Disease
Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle... OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ... OMIM:619064
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Cough, Abn... ORPHA:77260
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Ne... OMIM:619003
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... ORPHA:157973
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Car... OMIM:608540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat... ORPHA:52430
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hydrocephalus, Jaundice, Ascites ORPHA:858
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Hyp... ORPHA:79328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonary arterial... OMIM:616028
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Pancreatitis ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hypersplenism, Splenomegaly, High-output congestive heart failure,... ORPHA:231226
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Respiratory insuf... ORPHA:746
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Myopathy... OMIM:604377
Transaldolase Deficiency
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Biventricular hyp... ORPHA:101028
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... ORPHA:50251
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Edema, Ja... ORPHA:20
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myop... OMIM:610717
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur... OMIM:253800
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema OMIM:608068
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Dilated cardiomyopathy, Bradycardia, Aspiration, Dry skin OMIM:610768
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... OMIM:618652
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Scimitar Syndrome
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing... ORPHA:185
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation ORPHA:83473
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... ORPHA:67
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chole... OMIM:620233
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, Splenomegaly, High-output congestive ... ORPHA:231214
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re... ORPHA:254864
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ... OMIM:615352
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Meningocele, Respiratory insufficiency, Abno... ORPHA:1759
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Dyspnea ORPHA:75563
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Elevated circ... OMIM:256810
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, Co... ORPHA:454836
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,... OMIM:256550
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... ORPHA:90065
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:613752
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... OMIM:601005
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... ORPHA:3260
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, D... OMIM:614582
Babesiosis
Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart failure, Respirator... ORPHA:108
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Abnormal lact... ORPHA:42
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Distal amyo... OMIM:232400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphr... ORPHA:1120
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... OMIM:617336
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the li... ORPHA:137667
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea,... OMIM:618278
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... OMIM:615895
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Cardiomyopathy, Facia... ORPHA:171433
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ... ORPHA:66634
Asbestos Intoxication
Reduced vital capacity, Edema, Right ventricular failure, Reduced forced vital capacity, Nonprodu... ORPHA:2302
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Asthma, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthro... OMIM:614262
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... ORPHA:292
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... OMIM:203800
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction OMIM:615703
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Facial pal... ORPHA:254892
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... ORPHA:79083
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardio... OMIM:610505
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Erythema, Death in childhood, Left ventricular hypertrophy, ... OMIM:618321
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia ORPHA:1296
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Elevated circulating aspartate aminotran... OMIM:608779
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen... OMIM:232500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... ORPHA:2348
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi... ORPHA:1054
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundan... ORPHA:3342
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresi... OMIM:306955
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Splenomegaly,... OMIM:309900
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ventricular function, Cardiomyopa... OMIM:613155
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis, Cutis laxa OMIM:105120
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... ORPHA:97214
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepati... OMIM:231680
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Left ventricular hyper... OMIM:619355
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Intracranial hemorrhage, Respira... ORPHA:3226
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Pancreatitis OMIM:251000
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Exertional dyspnea ORPHA:90037
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, ... OMIM:617303
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:261519
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal... ORPHA:565612
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... OMIM:619573
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... ORPHA:210122
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... OMIM:616816
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspn... ORPHA:255210
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Death in infancy, Ventric... OMIM:208085
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Respiratory insufficiency, Cardiomyopathy, Endocardi... ORPHA:2119
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy OMIM:613730
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Edema, Cardiomegaly,... ORPHA:79330
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Edema, Splenomegaly... ORPHA:90051
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... OMIM:615512
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, A... ORPHA:2519
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Dyspne... OMIM:123700
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyp... ORPHA:528
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Elevated hepatic transaminase, Jaundice, H... ORPHA:90062
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Perito... ORPHA:727
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Restrictive cardiomyopathy, Cholelithiasis ORPHA:822
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Congestive heart failure, Aplas... ORPHA:354
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor, Abnormal pattern of respiration ORPHA:29822
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus, Abnormal left ventricular function,... ORPHA:229
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Peau d'orange, Elevated hepatic transaminase, Ventricular septal... OMIM:614576
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor, Exertional dyspnea ORPHA:90033
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... ORPHA:324
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Respiratory distress, Abnormal heart v... ORPHA:781
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Splenomegaly, Congestive... ORPHA:33226
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf muscle hypertrophy,... ORPHA:98896
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephal... ORPHA:505248
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Pallor ORPHA:517
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Apnea, Splenomegaly, Hydrocephalus, Congestive heart ... ORPHA:579
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Hepatomegaly... ORPHA:365
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Holo... OMIM:202650
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress ORPHA:89844
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... OMIM:616037
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Purpura, Increased circulating lactate dehydrogenase concen... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Spl... OMIM:608799
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... OMIM:212138
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Polyhydramnios, Cardiomyopathy, Myopathy, Stillbirth, Respiratory... OMIM:614922
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Asthma, Patent duc... OMIM:606003
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... OMIM:611134
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme conc... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia OMIM:612776
Cednik Syndrome
Congestive heart failure ORPHA:66631
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... ORPHA:98908
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... ORPHA:79282
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, High-output congestive heart failure, Jaund... ORPHA:231222
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma ORPHA:141179
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa... ORPHA:228305
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Optic Atrophy 1
Pallor OMIM:165500
Scorpion Envenomation
Bundle branch block, Edema, Tachypnea, Prominent U wave, Elevated circulating aspartate aminotran... ORPHA:466677
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... ORPHA:91139
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... ORPHA:596
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis OMIM:606069
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distr... OMIM:615042
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Purpura OMIM:604250
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Mit... OMIM:612561
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma ORPHA:141184
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Flexion contracture, Atrial septal defect, Hypertrophic cardi... OMIM:619383
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... ORPHA:31824
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Hydrocephalus, Hepatic ca... ORPHA:228308
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial h... OMIM:613320
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Skin ulcer, Rhiniti... ORPHA:507
Viss Syndrome
Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Emphysem... OMIM:619472
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Decreased liver function, Abnormal heart morphology ORPHA:79327
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f... ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal d... OMIM:618839
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Asthma, Pate... OMIM:601808
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Patent ductus arteriosu... OMIM:217980
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Dehydration, Aspir... ORPHA:2131
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... ORPHA:824
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor ORPHA:75564
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegal... OMIM:615688
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he... OMIM:229300
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... ORPHA:423
Atransferrinemia
Congestive heart failure, Abnormality of the liver OMIM:209300
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Congestive heart failure, Fl... ORPHA:682
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida ORPHA:2345
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Redundant skin, Congestive heart failure, Hydrocephalus, Res... OMIM:616482
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular ... OMIM:613404
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Increased iduronate sulfata... OMIM:252500
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... OMIM:617253
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Hepatic fibrosis OMIM:613989
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Myositis, Sinusitis, Pneumonia, Edema, Myocarditis, Per... ORPHA:36234
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Triploidy
Hepatomegaly, Polyhydramnios, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormalit... ORPHA:3376
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Al Amyloidosis
Nonproductive cough, Xerostomia, Abnormality of the liver, Hepatomegaly, Abnormal EKG, Elevated c... ORPHA:85443
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Polyhydramnios, Edema ORPHA:1423
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Congestive heart ... ORPHA:525731
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M... OMIM:614008
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomeg... OMIM:616651
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Joubert Syndrome 18
Occipital encephalocele, Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly OMIM:614815
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Macroglossia, Neural tube defect, Cardiomy... ORPHA:79321
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... ORPHA:280365
Sweet Syndrome
Myositis, Dilated cardiomyopathy, Pyoderma gangrenosum, Skin vesicle, Small vessel vasculitis ORPHA:3243
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension ORPHA:767
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Fatt... ORPHA:329478
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Cirrhosis OMIM:127550
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect, Bronchiectasis OMIM:620184
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Decreased muscle mass, ... ORPHA:1900
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Ventricular septal defect, Reduced level of N-acetylgluc... ORPHA:79329
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly, Polyhydramnios, Respiratory distress ORPHA:990
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Tachypnea, Dehydration, Hypertension, Pallor, Hypotension, Cough ORPHA:134
Erdheim-Chester Disease
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Dyspnea, Joi... ORPHA:35687
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Death in childhood, Umbilical... OMIM:612938
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... ORPHA:2255
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmat... ORPHA:1166
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertroph... OMIM:618835
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros... OMIM:615630
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Abnormality... OMIM:620278
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, D... ORPHA:226313
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... OMIM:615668
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Respiratory insufficiency, Dehydration, Cardiomyopathy, Pancreatitis ORPHA:27
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Fumarase Deficiency
Decreased fumarate hydratase activity, Polyhydramnios, Intrahepatic cholestasis, Perimembranous v... OMIM:606812
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Respiratory di... ORPHA:537
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Xerostomia, S... ORPHA:220393
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Co... ORPHA:2038
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... ORPHA:97287
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Hydrocep... ORPHA:2556
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Atrial septal defect, Hydrocephalus, Right atrial enlargement OMIM:615219
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Congestive heart failure, Hydrocephalus, Aplasia/Hypop... ORPHA:3309
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Respiratory distress, Polyhydramnios, Congestive... OMIM:617156
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Flexion contracture, Ventricular septal defect OMIM:147800
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia OMIM:620306
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Flexion contra... OMIM:616271
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect OMIM:602501
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Atrial... ORPHA:290
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro... OMIM:616483
Leigh Syndrome
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Multiple joint co... ORPHA:506
Propionic Acidemia
Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Propionyl-CoA... OMIM:606054
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Reduced beta-hexosaminidase activ... OMIM:268800
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:620210
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus... OMIM:231005
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Reduced red cell pyruvate kinase level, Splenomegaly, Ja... OMIM:266200
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio... ORPHA:79404
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... ORPHA:171
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Joubert Syndrome 15
Exencephaly OMIM:614464
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr... OMIM:603387
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Neonatal respiratory distre... OMIM:618870
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Righ... OMIM:617403
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... OMIM:616564
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,... ORPHA:70588
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Lack of skin... OMIM:231050
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Congestiv... ORPHA:533
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Esophageal Atresia
Respiratory distress, Ventricular septal defect, Polyhydramnios, Episodic respiratory distress, C... ORPHA:1199
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... OMIM:608149
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pallor, Ch... ORPHA:667
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... OMIM:614424
Costello Syndrome
Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ... ORPHA:3071
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor OMIM:613839
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Redundant skin, Congestive heart failure, Dilatation of th... ORPHA:90349
Abetalipoproteinemia
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa... ORPHA:14
Martsolf Syndrome 1
Tracheomalacia, Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... ORPHA:209905
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Aplasia/Hypoplasia of the ... ORPHA:1926
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios ORPHA:2256
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hepatic steatosis, Abnormal... ORPHA:17
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Aarskog-Scott Syndrome
Umbilical hernia, Camptodactyly of finger, Congestive heart failure ORPHA:915
Tyshchenko Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema, Patent ductus arteriosus, Recurrent pneumonia, Paten... OMIM:607143
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular t... ORPHA:159
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... ORPHA:273
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f... OMIM:602782
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ... OMIM:603903
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Exertional dyspnea ORPHA:90036
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Cerebral edema, Facial erythema ORPHA:439218
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, H... ORPHA:3426
Breath-Holding Spells
Pallor OMIM:607578
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheo... ORPHA:1393
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... ORPHA:199241
Emanuel Syndrome
Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Hydr... OMIM:609029
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent... OMIM:605275
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations, Exertional dyspnea ORPHA:86839
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Nipah Virus Disease
Respiratory distress, Hypotension, Cough ORPHA:99825
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Respiratory insuffi... OMIM:166210
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... ORPHA:99776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture ORPHA:89842
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Edema, Myocarditis, Dyspnea, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hype... ORPHA:544482
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Death in childhood OMIM:246450
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
3C Syndrome
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... ORPHA:7
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... ORPHA:85450
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Restrictive ventilat... OMIM:600462
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Dry skin ORPHA:508542
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Succinic Acidemia
Respiratory distress OMIM:600335
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de... OMIM:610733
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Cerebral ischemia ORPHA:927
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ... ORPHA:1488
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Redundant neck skin, Ventricular septal defect, Polyhydramnios, L... OMIM:235255
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Rhabdomyolysis, Hepatic calcification... ORPHA:157
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Fetal ascites, Polyhydramnios, Neonatal asphyxia... ORPHA:141127
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, P... OMIM:105650
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Cardiac arrest, Myocarditis, Angioedema, Er... ORPHA:139402
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Atrial septal defect, U... OMIM:619769
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Congesti... ORPHA:902
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Hydrocephalus, Pate... OMIM:269860
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:333
Emanuel Syndrome
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... ORPHA:96170
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis ORPHA:85202
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Elevated ... OMIM:260400
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... OMIM:618494
Filippi Syndrome
Ventricular septal defect OMIM:272440
Malaria
Respiratory distress ORPHA:673
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Polyhydramnios, Contractures o... ORPHA:329178
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Woods Syndrome
Ventricular septal defect OMIM:615236
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... ORPHA:2970
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... ORPHA:509
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Ging... ORPHA:98870
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Agel Amyloidosis
Facial palsy, Edema, Xerostomia, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Blepharocha... ORPHA:85448
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Apnea, Cardiomegaly, Secundum atrial ... OMIM:300855
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Letterer-Siwe Disease
Dyspnea, Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Pancreatitis ORPHA:289916
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... OMIM:301056
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:243800
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Congestive heart failure ORPHA:137608
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Hypertension, R... ORPHA:52
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh... OMIM:620369
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insuff... ORPHA:452
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atr... OMIM:618316
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... ORPHA:369891
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... OMIM:612582
Ogden Syndrome
Torticollis, Ventricular septal defect, Cutis laxa, Cardiogenic shock, Arrhythmia ORPHA:276432
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Calf muscle... OMIM:615673
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... ORPHA:363623
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly OMIM:301039
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca... OMIM:256040
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... ORPHA:576
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Perimembranous ventricular septal defec... OMIM:600987
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Situs inversus totalis, Cong... ORPHA:991
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Flexion contracture, Ventricular septal defect, Recurrent aspirati... ORPHA:79243
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy... OMIM:557000
Dravet Syndrome
Pallor ORPHA:33069
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atr... ORPHA:488618
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o... ORPHA:90348
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Restrictive ventilatory defect,... OMIM:203300
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Retinitis Pigmentosa 51
Pallor OMIM:613464
Degcags Syndrome
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Polyh... OMIM:619488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Neonatal death, Atrial s... OMIM:265380
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced for... OMIM:613686
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hyper... OMIM:601992
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... ORPHA:477817
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Polyhydramnios OMIM:219730
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension, Elevated total serum tryptase ORPHA:98849
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Elevated alkaline phosp... ORPHA:51608
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous... ORPHA:2311
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... ORPHA:258
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Asthma, Patent ductus arteriosus, Abnormal h... ORPHA:444077
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Interface hepatitis, D... OMIM:243150
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Erythema, Retinal ... ORPHA:464
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Apneic episodes in infancy, Ventricular septal defect ORPHA:3078
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Camptodactyly of finger ORPHA:2876
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure, Edema ORPHA:2505
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe... OMIM:617360
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Dermal translucency, Torticollis, Multiple joint contractures, Repeated pne... ORPHA:536467
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Atrial s... ORPHA:124
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Abnormal circulating enzyme concentration or activity, Neonatal respiratory distre... ORPHA:79345
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Abnormal liver lo... OMIM:608022
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... OMIM:619534
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Atrial septal defect, Intrahepatic biliary dysgenesis, ... OMIM:614866
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Hydrocephalus, Vasculit... ORPHA:228123
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... OMIM:609942
Plague
Abnormal bleeding, Hepatomegaly, Tachycardia, Respiratory distress, Edema, Hematemesis, Splenomeg... ORPHA:707
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatase, Macroglossia, ... OMIM:618143
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Joint contracture of th... OMIM:201000
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ... OMIM:619123
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Torticollis, Congestive heart failure, Abn... ORPHA:48818
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios ORPHA:1923
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect OMIM:615583
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Seckel Syndrome 9
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Asthma, Atrial septal... OMIM:616777
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:600901
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Conge... ORPHA:2092
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningoce... OMIM:130720
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... OMIM:619657
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
1P36 Deletion Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the spleen, Patent ductu... ORPHA:1606
Zellweger Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Respiratory insufficiency, H... ORPHA:912
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... OMIM:245600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly, Bronchiectasi... ORPHA:391487
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness, Inspira... OMIM:207950
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect, Holoprosencephaly ORPHA:77298
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis ORPHA:3378
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Bruising susceptibility, Macroglos... OMIM:230000
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227650
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Xerostomia, Respiratory distress ORPHA:1051
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... OMIM:115470
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Splenomegaly, Pancr... ORPHA:1655
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast... ORPHA:84064
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Congenital Myasthenic Syndrome
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... ORPHA:98914
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Anemic pallor, Bruising susceptibility OMIM:227645
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology, Annular pancre... OMIM:227646
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Neonatal respiratory distress, Patent ductus arteriosus, Ventricular septal... ORPHA:457193
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Large placenta, Sp... OMIM:222470
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atro... ORPHA:2388
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Respiratory distress OMIM:300968
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Scalp-Ear-Nipple Syndrome
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... OMIM:181270
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, At... ORPHA:904
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617452
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... OMIM:600001
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Death in infancy, Hydrocephalus, Ventricular septal defect OMIM:300514
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Bohring-Opitz Syndrome
Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... ORPHA:97297
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Atrioventricular bl... ORPHA:581
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common... OMIM:619702
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia OMIM:616920
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Limb muscle weakness, Cirrh... ORPHA:1546
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Pallor, Intrahepatic bile duct dilatation OMIM:616307
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Congestive heart failure, Pedal edema ORPHA:247353
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Polyhydramnios OMIM:617180
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Flexion contracture, Cu... OMIM:605039
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Polyhydramnios, Contrac... OMIM:114290
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Abnormal heart rate ... ORPHA:206436
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Patent ductus arteriosus, Abnormal heart morphology, Patent foramen ovale, ... ORPHA:177907
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left h... OMIM:100300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Ventricular septal defect ORPHA:505237
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypotension, Arrhythmia, Dry skin, Abnormal pattern of respiration ORPHA:428
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Elev... OMIM:618188
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Aregenerative Anemia
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Respiratory distress, Truncus arteriosus, Ventricula... ORPHA:508488
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Miscarriage, Myocarditis, Myelopathy, Splenomegaly, Con... ORPHA:3385
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Hypertension, Umbilical hernia ORPHA:1555
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... ORPHA:2008
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... OMIM:182250
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Neoplasm of the pancreas, Pericardial effusion, Rayn... ORPHA:358
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Limb muscle weakness, Decreased circulating biotinidase ... ORPHA:79241
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... ORPHA:3380
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Radio-Tartaglia Syndrome
Dry skin, Ventricular septal defect, Striae distensae OMIM:619312
Amish Lethal Microcephaly
Hepatomegaly, Death in infancy, Spina bifida, Limb hypertonia ORPHA:99742
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh... OMIM:256520
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu... OMIM:619475
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Polyhydramnios OMIM:151210
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Hypertension, Respirat... ORPHA:805
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Oligohydramnios OMIM:620113
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
22Q11.2 Deletion Syndrome
Polyhydramnios, Atrial septal defect, Spina bifida, Patent ductus arteriosus, Chronic pulmonary o... ORPHA:567
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration OMIM:251110
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Atrio... OMIM:617088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Heart mur... ORPHA:163979
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atr... OMIM:616546
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... OMIM:270100
Parkes Weber Syndrome
Abnormal bleeding, Subarachnoid hemorrhage, Myelopathy, High-output congestive heart failure, Ski... ORPHA:90307
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Joint swelling, Respiratory distress OMIM:612852
Camptodactyly Syndrome, Guadalajara Type 1
Scapular winging, Camptodactyly of finger, Spina bifida ORPHA:1327
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur ORPHA:166035
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
19Q13.11 Microdeletion Syndrome
Dry skin, Ventricular septal defect ORPHA:217346
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla... OMIM:274000
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrocephalus, Incr... ORPHA:3472
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Tracheomalacia,... OMIM:218040
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno... ORPHA:51
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Anemic pallor, Edema ORPHA:329971
C Syndrome
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa OMIM:211750
Orotic Aciduria
Atrial septal defect, Reduced orotidine 5-prime phosphate decarboxylase level, Ventricular septal... OMIM:258900
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... ORPHA:79474
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... OMIM:300963
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... OMIM:616268
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Redundant neck skin... OMIM:214100
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Pul... ORPHA:163956
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Apnea, Tracheomalacia, Hydrocephalus, Pa... OMIM:300373
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... OMIM:616368
Recombinant 8 Syndrome
Ventricular septal defect, Redundant skin, Camptodactyly of finger, Patent ductus arteriosus, Atr... ORPHA:96167
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Macroglossia, Tracheomalacia, Arrhythm... ORPHA:261494
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Holoprosencephaly, Congenital diaphragmatic hernia OMIM:612530
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... OMIM:300472
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Ventricular septal defect, Spina bifida, Polyhydramnios, ... OMIM:180849
Kniest Dysplasia
Hip contracture, Umbilical hernia, Respiratory distress, Tracheomalacia OMIM:156550
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Redundant neck skin, Hydrocephalus, Hypertension, Palmoplantar cutis laxa OMIM:123790
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig... OMIM:617506
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... OMIM:274150
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Trach... ORPHA:268249
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Aortopulm... OMIM:620025
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Fountain Syndrome
Facial edema, Erythema, Spina bifida occulta, Spina bifida ORPHA:3219
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Excessive... ORPHA:2962
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... OMIM:117550
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, L... ORPHA:116
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... OMIM:619418
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... ORPHA:508498
Achondroplasia
Respiratory distress, Death in infancy, Polyhydramnios, Hydrocephalus, Upper airway obstruction OMIM:100800
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios ORPHA:96201
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
16P13.11 Microdeletion Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect, Holoprosencephaly ORPHA:261236
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Facial palsy, Elbow flexion... ORPHA:79139
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis OMIM:614114
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration OMIM:251100
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ... ORPHA:1692
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios OMIM:615503
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Death in infancy, Ventricular septal de... ORPHA:373
Donnai-Barrow Syndrome
Umbilical hernia, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic ... OMIM:222448
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect, Dry skin OMIM:619306
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... OMIM:257920
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:610338
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Asthma, Respiratory insuffic... ORPHA:488632
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
Stt3B-Cdg
Respiratory distress ORPHA:370924
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyl... OMIM:617602
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, ... ORPHA:769
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture ORPHA:79408
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... OMIM:607721
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Hydrocephalus, Patent ductus arteriosus, Airway obstruction, Pr... OMIM:602535
Den Hoed-De Boer-Voisin Syndrome
Dry skin, Ventricular septal defect, Death in adolescence, Oligohydramnios OMIM:619229
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Lymphedema, Arrhythmia ORPHA:2874
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... OMIM:615582
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Hydro... OMIM:210710
Prolactinoma
Pallor, Hypotension ORPHA:2965
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... OMIM:300998
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ... OMIM:618268
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... OMIM:263520
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Neural tube d... ORPHA:798
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Chylothorax, ... OMIM:163950
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:309520
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Meningocele, Respiratory insufficiency ORPHA:2031
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect OMIM:183900
Meckel Syndrome, Type 2
Encephalocele, Bile duct proliferation, Meningocele, Anencephaly OMIM:603194
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steatos... ORPHA:64
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Down Syndrome
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... OMIM:190685
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary a... OMIM:618454
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Myositis, Pneumonia, Splenomegaly, Hepatitis... ORPHA:37042
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tracheomalac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tracheomalac... ORPHA:363958
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cardiomyopathy, Bronchospasm, Umbilical h... ORPHA:33364
Jacobsen Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Annular pancreas, Hypoplastic left hea... ORPHA:2308
Duane-Radial Ray Syndrome
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... OMIM:607323
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Pat... ORPHA:2745
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture o... ORPHA:96334
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Redundant neck skin, Apnea, Meningocele, ... ORPHA:397715
Retinitis Pigmentosa 75
Pallor OMIM:617023
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertensi... ORPHA:653
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormality of the liver, Abnormal cardiac... ORPHA:84
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Contracture of the distal interphalangea... ORPHA:83617
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... OMIM:301043
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, A... ORPHA:1708
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atri... ORPHA:261330
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P... ORPHA:261337
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect, Aspiration OMIM:300000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... ORPHA:464311
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia ORPHA:93259
Hajdu-Cheney Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, S... ORPHA:955
Hallermann-Streiff Syndrome
Tracheomalacia, Congestive heart failure, Abdominal situs inversus, Respiratory insufficiency ORPHA:2108
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Unilateral f... OMIM:619480
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Keutel Syndrome
Sinusitis, Miscarriage, Ventricular septal defect, Hypertension, Pulmonic stenosis, Emphysema, Ch... OMIM:245150
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Hydrocephalus, Ventricular septal defect OMIM:619575
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... OMIM:164280
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... ORPHA:220386
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Jacobsen Syndrome
Ventricular septal defect, Hydrocephalus, Flexion contracture, Holoprosencephaly, Atrial septal d... OMIM:147791
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Fetal ascites, Flexion contracture, Knee flexion contracture, Facial erythema, Scaling ski... OMIM:619503
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... ORPHA:444072
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios, Hepatitis, Abnormal ductus choledochus morphology, Per... ORPHA:436252
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Hydrocephalus, Patent... ORPHA:96121
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... ORPHA:363700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood OMIM:600460
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea, Pallor, ... OMIM:233450
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Polyhydramnios, Flexion contracture, Lack of skin elastici... ORPHA:2671
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the ... OMIM:229850
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly OMIM:146510
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Spina bifida occulta, Ventricular septal defect OMIM:301030
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Facial hypotonia, Intrinsic ha... OMIM:615273
Humero-Radial Synostosis
Meningocele ORPHA:3265
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... OMIM:613776
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Iniencephaly
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Myel... ORPHA:63259
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Carney Complex
Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Hepatocellular ... ORPHA:1359
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Polyhydramnios, Hepatoblastoma, Atrial septal defect, Hepatomega... OMIM:312870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A... ORPHA:1465
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93260
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Occipital meningocel... OMIM:243910
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Craniofacioskeletal Syndrome
Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect OMIM:300712
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
Hallermann-Streiff Syndrome
Spina bifida, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arteri... OMIM:234100
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... ORPHA:464306
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect OMIM:244450
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,... ORPHA:2729
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Phace Association
Patent ductus arteriosus, Ventricular septal defect OMIM:606519
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Larsen Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Tracheomalacia OMIM:150250
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... ORPHA:3474
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent du... OMIM:270400
Diets-Jongmans Syndrome
Umbilical hernia, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida ORPHA:2839
Velocardiofacial Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Hepatic hemangioma, Petechiae, Purpura ORPHA:2330
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, A... ORPHA:480880
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Autosomal Recessive Robinow Syndrome
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... ORPHA:1507
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Upper airway obstruction ORPHA:1827
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... ORPHA:97360
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... ORPHA:3047
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Flexion contracture, Camptodactyly, Emphysema, Joint cont... OMIM:224690
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Edema OMIM:616038
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosu... OMIM:117650
Lathosterolosis
Hepatomegaly, Meningocele, Intrahepatic cholestasis, Hepatic failure ORPHA:46059
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Doors Syndrome
Respiratory distress, Polyhydramnios, Sirenomelia, Aspiration pneumonia, Double outlet right vent... ORPHA:79500
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran... ORPHA:818
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... OMIM:619268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pneumonia, Asth... ORPHA:353281
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Holoprosencephaly OMIM:613884
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect OMIM:101200
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... OMIM:300166
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, P... OMIM:154400
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Spina bifida ORPHA:261318
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, A... ORPHA:79318
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Ventricular septal defect OMIM:102500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Muscular dystrophy, Pallor OMIM:253280
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... ORPHA:99646
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... ORPHA:3206
Nail-Patella Syndrome
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... OMIM:161200
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Adnp Syndrome
Respiratory distress, Umbilical hernia, Aspiration ORPHA:404448
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Dry skin, Periorbital wrinkles OMIM:305100
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, S... OMIM:304120
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Fl... OMIM:617140
Rodrigues Blindness
Nasal flaring OMIM:268320
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Annular pancreas OMIM:616975
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Dry skin, Facial erythema, Scaling skin, Flexion contracture of finger ORPHA:1010
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia OMIM:122470
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbilical hernia OMIM:616145
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Hydroceph... OMIM:268300
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt... OMIM:309500
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, ... OMIM:615948
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:258315
Digeorge Syndrome
Ventricular septal defect, Cholelithiasis, Splenomegaly, Asthma, Chronic pulmonary obstruction, R... OMIM:188400
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... ORPHA:459070
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra... OMIM:194050
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida ORPHA:3412
Osteoglophonic Dysplasia
Respiratory distress, Camptodactyly of finger OMIM:166250
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... ORPHA:573278
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Neurofibromatosis, Type I
Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension OMIM:162200
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Bilobate gallbladder, Hydrocephalus, ... OMIM:261540
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Hydrocephalus, Biliary tract ... OMIM:194190
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Mowat-Wilson Syndrome
Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... OMIM:235730
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Distal arthrogryp... ORPHA:672
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Coffin-Siris Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Tetralogy o... OMIM:135900
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... OMIM:601803
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... ORPHA:821
Kabuki Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Recurrent aspiration pneumonia OMIM:147920
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Aicardi Syndrome
Hepatoblastoma, Recurrent pneumonia, Spina bifida OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Asthma, Recurrent pneumonia, Ventricular septal defect OMIM:620330
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca... OMIM:216340
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Townes-Brocks Syndrome 1
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern... OMIM:107480
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... OMIM:606170
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Isolated Arrhinia
Respiratory distress ORPHA:1134
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis OMIM:614748
Cornelia De Lange Syndrome
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... ORPHA:199
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios ORPHA:3404
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal... OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ... ORPHA:261552
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Elbow flexion contracture OMIM:276820

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 Fkbp1a

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 Fkbp1a.

No publications found that use IMPC mice or data for Fkbp1a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fkbp1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fkbp1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fkbp1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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