Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 11
Synonyms:
PTP2C,  PTP1D,  2700084A17Rik,  SHP-2,  SH2 domain-containing protein tyrosine phosphatase-2,  Syp,  SH-PTP2,  Shp2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptpn11 mutations

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

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

The table below shows human diseases predicted to be associated to Ptpn11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Ethanolaminosis
Cardiomegaly OMIM:227150
Fallot Complex With Severe Mental And Growth Retardation
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle,... OMIM:601127
7P22.1 Microduplication Syndrome
Abnormality of the outer ear, Abnormal heart morphology, Macrocephaly, Cryptorchidism, Hypertelorism ORPHA:314034
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ... OMIM:619433
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Cirrhosis, A... ORPHA:101028
Noonan Syndrome 11
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cut... OMIM:618499
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circ... OMIM:619048
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:280365
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Low-set, posteriorly rotated ears, Radial... ORPHA:1388
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def... OMIM:616897
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Abnormal... ORPHA:99886
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Splenomegaly, Hepatomegaly, Po... OMIM:619462
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Proximal muscle weakness in lower limbs, Proxima... ORPHA:435660
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap OMIM:251220
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... ORPHA:1937
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Dec... OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Increased variability in muscle fiber diameter, Dilated cardiomyopathy... OMIM:608099
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Nonimmune hydrops fetalis, Joint contracture, Hepatomegaly, Flexion... OMIM:608540
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology ORPHA:48686
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Pectus carinatum, Small hand, Clinodactyly, Overfolded helix, Cryptorchidism, ... OMIM:614684
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... OMIM:232500
Microcephaly-Cardiomyopathy Syndrome
Abnormality of the outer ear, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Micr... ORPHA:2515
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Hearing impairment, Congestive heart failure, Recurrent otitis media, Abn... ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Abnormal left... OMIM:605362
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Congenital hip dislocation, Joint contracture of the hand,... OMIM:300280
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fe... ORPHA:163596
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Noonan Syndrome 8
Low-set ears, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral re... OMIM:615355
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal foot morphology, Abnormal ... ORPHA:168796
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, Macrocephaly, Genu valgum, Cuta... ORPHA:166024
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Cantu Syndrome
Wide nasal bridge, Depressed nasal bridge, Narrow chest, Congenital hypertrophy of left ventricle... OMIM:239850
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachy... OMIM:610140
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Oligohydramnios, Nonimmu... OMIM:231100
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis, Pre... OMIM:269920
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hypertension, Left ventricular hype... OMIM:540000
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Decr... OMIM:253300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Wide nasal bridge, Dilated cardiomyopathy, Aplasia of the phalanges of the 3r... ORPHA:2229
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Congestiv... OMIM:620609
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Non-Distal Duplication 10Q
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Microcep... ORPHA:1695
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle at... ORPHA:3208
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Pes cavus, Type 1 muscle fiber predominance, Talipes equinovarus... OMIM:617336
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retard... OMIM:614702
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Postnatal growth retardation, Intrauterine growth ... OMIM:616733
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circulating hepatic tr... ORPHA:367
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ... OMIM:616827
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Areflexia ... OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Bi... OMIM:615981
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hearing impairment, Macrotia, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Ant... ORPHA:2701
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Bulbous nose, Hypotelorism, Ventricular septal defect, Atrial septal defect, Pectus... OMIM:618330
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:613327
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent for... ORPHA:555874
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Recombinant Chromosome 8 Syndrome
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... OMIM:179613
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Usher Syndrome, Type 1M
Abnormal vestibular function, Left ventricular hypertrophy, Prelingual sensorineural hearing impa... OMIM:618632
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Flared nostrils, Dilated cardiomyopathy, Decreased testicular size, Azoospermia, Is... ORPHA:280679
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, De... OMIM:618316
Congenital Myopathy 11
Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Weakness of facial... OMIM:619967
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Sp... OMIM:256550
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina... OMIM:231530
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Cryptorchidism, Talipes equino... OMIM:611209
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Mi... OMIM:618235
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Micrognathia, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Mildly elevated creatine kinase, Slender build, Type 1 m... OMIM:161800
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Vertigo, Palpitations,... OMIM:608758
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Diffuse Neonatal Hemangiomatosis
Ascites, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Acute... ORPHA:71212
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, ... OMIM:618120
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Craniofrontonasal Dysplasia
Finger syndactyly, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Sprengel an... ORPHA:1520
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Hydrops ... OMIM:253250
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... OMIM:212138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Cryptorchidism, Microcephaly, Left ven... OMIM:613156
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Depressed nasal bridge, Proptosis, Micromelia, Hearing impairment... ORPHA:1860
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Small hand, Dilated cardiomyopathy, Abnormal hand morphology, Decreased testicular ... OMIM:300845
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Noonan Syndrome 6
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal sternum morphology, Hypertrophi... OMIM:613224
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Hearing impairment, Cryptorchi... ORPHA:376
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Fetal distress, Cholestas... ORPHA:292
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Pes planus, Calf muscle hypertrophy,... ORPHA:263494
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Legius Syndrome
Low-set ears, Micrognathia, Hypertelorism, Pectus excavatum, Macrocephaly, Supravalvar pulmonary ... OMIM:611431
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Elevated... OMIM:615418
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Fetal akinesia sequence, Breech presentation, Polyhyd... OMIM:615731
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Recurrent shoulder dislocation, Narrow nose, Mitral regur... OMIM:212112
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Pelviscapular Dysplasia
Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hearing impairm... ORPHA:93333
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... OMIM:602390
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Phenobarbital Embryopathy
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Abnormal mitral valve morpholog... ORPHA:1919
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Ventricular septal defect, Elevated circulating a... OMIM:613759
Frontoocular Syndrome
Low-set ears, Proptosis, Micrognathia, Prominent nasal bridge, Hypotelorism, Atrial septal defect... OMIM:605321
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Decreased liver function, Ascit... OMIM:617021
Coenzyme Q10 Deficiency, Primary, 5
Secondary microcephaly, Intrauterine growth retardation, Decreased level of coenzyme Q10 in skele... OMIM:614654
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Downslanted palpebral fissures, Tetralogy of Fallot, Persistent left superior vena cava, Overridi... ORPHA:3304
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Pentasomy X
Wide nasal bridge, Small hand, Camptodactyly of finger, Low-set, posteriorly rotated ears, Microg... ORPHA:11
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing... OMIM:614407
Weiss-Kruszka Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Abnormal heart morphology, Crypto... ORPHA:502430
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Wide nasal bridge, Broad nasal tip, Clinodactyly, Microcephaly, Pectus excavatum, Short palm ORPHA:73273
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Decreased fetal movement, Neonatal death, Fetal akinesia... ORPHA:85212
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:79159
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Hepatomegaly, Atrial septal de... OMIM:608776
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Pectus carinatum, Prominent nasal bridge, Microcephaly, Posteriorly rotated ears, L... OMIM:609425
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased circul... ORPHA:79230
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... OMIM:618619
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Noonan Syndrome 10
Low-set ears, Pectus carinatum, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolap... OMIM:616564
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated circulating alanine aminot... OMIM:614921
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Atelosteogenesis Type Ii
Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum... ORPHA:56304
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment, Genu valgum, Mitral regurgitation, Mitral valve prolapse, P... ORPHA:230851
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula... OMIM:614876
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Low-set ears, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Mi... OMIM:245600
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Pes ... OMIM:618870
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Breech presentation, Increased myocardial g... OMIM:261740
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... ORPHA:272
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Long penis... ORPHA:1988
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Neurooculocardiogenitourinary Syndrome
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Secondary microcephaly, Prominen... OMIM:618652
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, Deeply set eye, Talipes equino... OMIM:619148
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture, Hydrops fetali... ORPHA:87876
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus carinatum, Tapered finger, Large hands, Hypertelorism, Pectus excavatum, Wide nose ORPHA:276630
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta... OMIM:610198
Diamond-Blackfan Anemia 16
Anemia, Atrial septal defect, Pulmonic stenosis OMIM:617408
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Type II diabetes mellitus, B... ORPHA:401923
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... OMIM:601005
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax, Cryptorchidism, T... OMIM:108720
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hepatomegaly, Hydrops fetalis, Splenomegaly ORPHA:2204
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Wide nasal bridge, Broad nasal tip, Thick nasal alae, Pes planus, Hypertelorism, Ma... OMIM:618147
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Pes cavus, Facial di... ORPHA:169186
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc... OMIM:616974
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Pectus carinatum, Depressed nasal bridge, Broad thumb, Macrocephaly, Atrial se... ORPHA:261295
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Pes cavus, Facial diplegia, Distal lower limb am... OMIM:609284
Tangier Disease
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Nail d... OMIM:205400
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Hadziselimovic Syndrome
Ventricular hypertrophy, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Epica... OMIM:612946
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... ORPHA:846
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... ORPHA:100093
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Microcephaly, Atrial septal defect, Ventricular septal defect OMIM:614249
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Coffin-Siris Syndrome 7
Low-set ears, Depressed nasal bridge, Hearing impairment, Recurrent otitis media, Thick nasal ala... OMIM:618027
Martsolf Syndrome 1
Low-set ears, Micrognathia, Cryptorchidism, Talipes equinovarus, Pes planus, Broad fingertip, Fin... OMIM:212720
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... ORPHA:1200
Lujan-Fryns Syndrome
Low-set ears, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Arachnodactyly, Prot... ORPHA:776
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Lower limb muscle weakness, Tricuspid regurgitation, Congestive heart failure, Hy... ORPHA:746
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Wide nasal bridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnorma... ORPHA:93267
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Low-set ears, Wide nasal bridge, Depressed nasal bridge, ... OMIM:607131
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Elevated circulating he... ORPHA:99901
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Developmental And Epileptic Encephalopathy 109
Intrauterine growth retardation, Left ventricular hypertrophy, Primary microcephaly, Failure to t... OMIM:620145
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Catel-Manzke Syndrome
Low-set ears, Narrow naris, Ulnar deviation of the 2nd finger, Micrognathia, Genu valgum, Cryptor... OMIM:616145
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nose, Prominent nasal bridge, Hearing abnormality, Protruding ear, Radioulnar synostosi... ORPHA:3270
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Pectus carinatum, Cupped ear, Cervical ribs, Overfolded helix, Ventricular septal d... OMIM:609654
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap,... OMIM:607143
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Pectus excavatum, Posteriorly rotated ears, Hypertelorism OMIM:619548
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Chondrocalcinosis, Abnormal atri... ORPHA:732
Trisomy X
Precocious puberty, Ventricular septal defect, Hypertelorism, Atrial septal defect, Hip dysplasia... ORPHA:3375
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... OMIM:609015
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Vertigo, Microcephaly, Left ventricular hypertrophy OMIM:614458
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentrat... OMIM:615084
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect ORPHA:306550
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:301075
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Skeletal muscle atrophy, Micrognathia,... ORPHA:2013
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Microcephaly, L... ORPHA:1326
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insu... ORPHA:324575
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Pes planus, Tra... ORPHA:261243
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Macrocephaly, Mitral regurgitation, Ventricular septal defect, Abnormal n... ORPHA:83473
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Slender finger, Broad thumb, Bulbous nose, Cryptorchidism, Patent foramen ovale, Ve... ORPHA:329224
Mcdonough Syndrome
Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Prominent nose, Micrognathia, Crypt... ORPHA:2471
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Low-set ears, Bell-shaped thorax, Flat acetabular roof, Hypoplas... OMIM:613320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, 11 pair... OMIM:617877
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Alopecia, Failure to thrive,... OMIM:610768
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Proptosis, Micrognathia, Femoral bowi... ORPHA:440354
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Aortic an... OMIM:620070
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... OMIM:609945
Hoxha-Aliu Syndrome
Low-set ears, Overlapping toe, Absent fifth metatarsal, Broad foot, Atrial septal defect, Uplifte... OMIM:620662
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges... OMIM:302060
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ... OMIM:619355
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Dk1-Cdg
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:91131
Noonan Syndrome 4
Low-set ears, Depressed nasal bridge, Abnormal sternum morphology, Hypertrophic cardiomyopathy, C... OMIM:610733
Chromosome 15Q26-Qter Deletion Syndrome
Low-set ears, Wide nasal bridge, Micrognathia, Cryptorchidism, Talipes equinovarus, Microcephaly,... OMIM:612626
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Li-Campeau Syndrome
Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Patent foramen ovale, Ventricular sep... OMIM:619189
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Broad nasal tip, Proptosis, Hearing impairment, Brachydactyly, Genu varum, Sho... OMIM:619451
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Decreased testicular size, Prominent nasal bridge, Protruding ear, Microcepha... ORPHA:85273
Noonan Syndrome 7
Low-set ears, Pectus carinatum, Depressed nasal bridge, Hypertrophic cardiomyopathy, Large earlob... OMIM:613706
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni... OMIM:620244
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Depressed nasal bridge, Pectus excavatum ORPHA:1375
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat... ORPHA:1667
Aarskog-Scott Syndrome
Genu recurvatum, Wide nasal bridge, Small hand, Finger syndactyly, Camptodactyly of finger, Conge... ORPHA:915
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Macroorchidism, postpubertal... OMIM:300624
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Downslanted palpebral fissures, Abnormal heart morphology, Failure to thrive i... ORPHA:477817
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal... ORPHA:36412
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Broad clavicles, Wide nasal bridge, Irregular acetab... OMIM:619698
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib... OMIM:255310
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Dilated cardiomyopathy, Disproportionate short-limb short stature, Abnormal c... OMIM:616541
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Eleva... ORPHA:352447
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Depressed nasal bridge, Left ventricular noncompa... OMIM:617228
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
ERI1-related disease
Low-set ears, Micrognathia, Ventricular septal defect, Pes planus, Patellar dislocation, Finger j... OMIM:608739
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Pes cavus, Knee flexion cont... OMIM:615290
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Slender finger, Broad nasal tip, Ventricular septal defect, Deeply set eye, Pe... OMIM:620393
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Microcephaly, Ptosis, Transposition o... ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Short nose, Bulbous nose, Micrognathia, Ov... OMIM:617061
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Generalized hirsutism, Cirrhosi... ORPHA:79083
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Pes planus... OMIM:620663
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly, Macrocephaly, Macroorchidism, Macrotia OMIM:300886
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Hyperammonemia, Microcephaly, ... ORPHA:254913
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Low-set ears, Hearing impairment, Prominent ear helix, Micrognathia, Cryptorchidism, Hyperteloris... OMIM:618659
Aicardi-Goutieres Syndrome 2
Microcephaly, Lymphocytosis OMIM:610181
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Cardiac Lipidosis, Familial
Microcephaly, Cardiomyopathy, Congestive heart failure OMIM:212080
Tyshchenko Syndrome
Low-set ears, Narrow chest, Proptosis, Cryptorchidism, Ventricular septal defect, Atrial septal d... OMIM:615102
Apparent Mineralocorticoid Excess
Failure to thrive, Intrauterine growth retardation, Abnormality of circulating cortisol level, De... ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Ventric... OMIM:618348
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Supravalvular aortic stenosis, Ventricular septal defect, ... OMIM:618624
Insulin-Like Growth Factor I, Resistance To
Abnormal rib cage morphology, Low-set ears, Small hand, Wide nasal bridge, Clinodactyly, Sandal g... OMIM:270450
Acrocraniofacial Dysostosis
Broad thumb, Micrognathia, Genu valgum, Sensorineural hearing impairment, Abnormality of the mall... ORPHA:949
16P11.2P12.2 Microduplication Syndrome
Pectus excavatum, Hypospadias, Microcephaly ORPHA:261204
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intrauterine growth reta... OMIM:617713
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Microcephaly, Patent foramen ovale, Bradycardia OMIM:617182
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Limb muscle weakness, Ragged-red ... OMIM:609286
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... OMIM:615959
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Narrow nasal bridge, Hearing abnormality, Abnormal thumb morphology, Hypot... ORPHA:2511
Sandhoff Disease
Failure to thrive, Cherry red spot of the macula, Congestive heart failure, Splenomegaly, Macroce... ORPHA:796
Trigonocephaly 2
Wide nasal bridge, Depressed nasal bridge, Microcephaly, Hypertelorism OMIM:614485
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Hypertelorism, ... OMIM:311300
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Foot oligodactyly, Amelia, Ventricular septal defect, Short femur OMIM:601357
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra... ORPHA:398124
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Small hand, Broad nasal tip, Recurrent upper respiratory tract infections, Heari... ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Premature birth OMIM:618839
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Small scrotum, Flared nostrils, Toe syndactyly, Micrognathia, Cryptorchidism, Senso... OMIM:609625
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
3Q13 Microdeletion Syndrome
Wide nasal bridge, Narrow chest, Anteverted nares, Cryptorchidism, Macrocephaly, Hypoplasia of pe... ORPHA:1621
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic... OMIM:618805
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ve... OMIM:619657
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Micrognathia, Macrocephaly, Pectus excavatum, Hypertelo... OMIM:618272
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Preaxial... OMIM:147750
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Weight loss, Hepatomegaly, Ascites, Hypothyroidism, Anemia... OMIM:619487
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis,... OMIM:618835
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Cardiomyopathy,... ORPHA:26791
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Sandal gap, Anteverted nares, Congenital d... OMIM:612530
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Ohdo Syndrome, Sbbys Variant
Low-set ears, Depressed nasal bridge, Dilated cardiomyopathy, Hearing impairment, Long hallux, Bu... OMIM:603736
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Gm1-Gangliosidosis, Type I
Depressed nasal ridge, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:230500
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... OMIM:215045
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Low-set, posteriorly rotated ears, Micr... ORPHA:261120
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Recombinant 8 Syndrome
Low-set ears, Small scrotum, Abnormality of the outer ear, Depressed nasal bridge, Deep plantar c... ORPHA:96167
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Intrauterine... ORPHA:26792
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Andersen-Tawil Syndrome
Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes... ORPHA:37553
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Hypertelorism, Hypopla... OMIM:277170
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal upper limb amyotrophy, Di... OMIM:614065
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy, Sensorineural hearing impairment OMIM:619688
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Bi... OMIM:618280
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congest... ORPHA:2348
Megalencephaly
Wide nasal bridge, Long penis, Genu valgum, Deeply set eye, Atrial septal defect, Macrocephaly, M... ORPHA:2477
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocyt... OMIM:618278
Coffin-Siris Syndrome 6
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Clinodactyl... OMIM:617808
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism... ORPHA:401935
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Autosomal Dominant Progressive External Ophthalmoplegia
Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Goiter, A... ORPHA:254892
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
8P23.1 Duplication Syndrome
Toe syndactyly, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Deeply set ey... ORPHA:251076
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, H... OMIM:212780
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Thin metatarsal cortices, Thin metacarpal cortices, Hypoplasia of the musculature, Sle... ORPHA:2463
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Pes cavus, Overfolded helix, Ar... OMIM:619092
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
X-Linked Intellectual Disability, Hedera Type
Absent Achilles reflex, Left ventricular hypertrophy, Pes planus, Hypomimic face, Hyporeflexia of... ORPHA:93952
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Proptosis, ... OMIM:619127
Double Outlet Right Ventricle
Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Truncus arteriosus, Ventricular s... ORPHA:3426
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im... ORPHA:500
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Cryptorchidism, Hypotelorism, Ventricular septal defect, Microcephaly, Macrocephaly,... OMIM:617798
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Elevated circulating ... OMIM:620300
Teebi-Shaltout Syndrome
Aortic valve stenosis, Pectus carinatum, Low-set ears, Hypoplastic helices, Caudal appendage, Bro... OMIM:272950
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae, Cervical ribs,... ORPHA:77300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Proptosis... ORPHA:352490
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Abnormal heart morp... ORPHA:137667
Infantile Spasms-Broad Thumbs Syndrome
Broad thumb, Hypertrophic cardiomyopathy, Micrognathia, Microcephaly, Vaginal hernia, Convex nasa... ORPHA:3173
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Hydrop... ORPHA:834
Ferguson-Bonni Neurodevelopmental Syndrome
Hearing impairment, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragmat... OMIM:619699
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686