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Gene: Ptpn11 MGI:99511

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

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 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
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... OMIM:601127
7P22.1 Microduplication Syndrome
Abnormal heart morphology, Hypertelorism, Abnormality of the outer ear, Macrocephaly, Cryptorchidism ORPHA:314034
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Cardiomyopathy, Atrial septal defect, Oligohydramnios... ORPHA:1909
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitati... OMIM:619433
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pectus excavatum, Depressed nasal bridge, Palmoplantar cutis laxa, H... OMIM:618499
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... OMIM:115197
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Cirrhosis, Hepatosplenome... ORPHA:101028
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Nemaline Myopathy 11, Autosomal Recessive
Pectus excavatum, Talipes equinovarus, Facial palsy, Cardiomyopathy, Pes cavus, Scapular winging,... OMIM:617336
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Reduced subcutaneous adip... OMIM:618097
Catel-Manzke Syndrome
Ventricular septal defect, Pectus excavatum, Micrognathia, Abnormality of epiphysis morphology, C... ORPHA:1388
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Large fleshy ears, Short nose, Short ribs, Micropenis, Anteverted nares, Low-set ear... OMIM:616897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Ventricular arrhythmia, Increased adipose tissue around the neck, Ab... ORPHA:280365
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in lower limbs, Loss of subcutaneous adipose tissue in lim... ORPHA:435660
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot,... OMIM:601348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Fai... OMIM:619048
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short humerus, Low-set ears, Short femur, Irregular epiphyses, Micrognathia,... OMIM:601560
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe,... OMIM:613458
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Abn... ORPHA:99886
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Nf1-Microdeletion syndrome
Abnormal heart morphology, Hypertelorism DECIPHER:15
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Microcephaly, Sandal gap OMIM:251220
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology, Camptodactyly of... ORPHA:1937
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gast... ORPHA:90308
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hydrops fetalis, Splenomegaly OMIM:613673
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Abnormal heart morphology, Atrial septal defect OMIM:617744
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Flexion contracture, Abnor... OMIM:608540
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pectus excavatum, Pericardial effusion, Pectus carinatum, Broad finger, Overfolded helix, Hyperte... OMIM:614684
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Edema, Decreased fetal movement, Cardiomyopathy, Polyhydramnios... OMIM:232500
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Sandal gap, Abnormality of the outer ear, Clin... ORPHA:2515
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Decrease... OMIM:253300
Primary Effusion Lymphoma
Abnormality of the peritoneum, Pleural effusion, Pericardial effusion ORPHA:48686
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Preeclampsia, Pericarditis, Polyhydramnios, Splenomegaly, Oligohydramnios, Congesti... ORPHA:163596
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Sparse eyelashes, Hypoketotic hypoglycemia, Failure to thrive, Sparse and... OMIM:610768
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Azoospermia, Broad finger, Wide nose, Hypertelorism,... OMIM:300845
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Sudden cardia... OMIM:605362
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Hearing impairment, Congestive hea... ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Varicose veins, Atrial sept... OMIM:617300
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Mitral regurgita... OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Micrognathia, Talipes equinovarus, Rhizomelia, Hypertelorism, Small hand, Wide nasal... OMIM:611209
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Oligohydramnios,... OMIM:231100
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... OMIM:160500
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal foot morphology, Abnormal atrioventricular conduction, Brachydac... ORPHA:168796
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Lipoatrophy... ORPHA:154
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohy... OMIM:601927
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis OMIM:618052
Cantu Syndrome
Bicuspid aortic valve, Coxa valga, Depressed nasal bridge, Pericardial effusion, Metaphyseal wide... OMIM:239850
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Hypertelorism, Wide nasal bridge, Delayed epiphyseal oss... ORPHA:166024
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodac... OMIM:610140
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... ORPHA:3405
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Growth delay, Failure to thrive, Elevated circulating creat... OMIM:615895
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Aplasia of the phalanges of the 3rd toe, Polycystic ovaries, Wide nasal b... ORPHA:2229
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98855
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Hirsutism, Insulin resistance, Elevated... OMIM:613327
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hyd... OMIM:269920
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Non-Distal Trisomy 10Q
Pectus excavatum, Convex nasal ridge, Depressed nasal bridge, Micrognathia, Short nose, Hypertelo... ORPHA:1695
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pectus excavatum, Short nose, Hypertelorism, Low-set, posteriorly ro... ORPHA:2701
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Small for gestational age, Elevated circulating cr... OMIM:616733
Mcdonough Syndrome
Prominent nose, Ventricular septal defect, Pectus excavatum, Micrognathia, Pectus carinatum, Hype... OMIM:248950
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Prematu... ORPHA:555874
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Vestibular dysfunction, Prelingual sensorineural hearing impairment OMIM:618632
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Azoospermia, Flared nostrils, Wide nos... ORPHA:280679
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Talipes equinovarus, Endo... OMIM:302060
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, External genital hypoplasia, Hypogonadism, Atrial ... OMIM:615981
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Sensorineural... OMIM:617713
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Micrognathia, Double outlet ... OMIM:179613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricular systolic dysfunction, C... OMIM:613156
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hepatic necrosis,... OMIM:231530
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Carvajal Syndrome
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Congestive heart failure ORPHA:65282
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Micrognathia, Facial palsy, Type 1 fibers relatively smaller th... OMIM:300580
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Nonimmune hydrops fetalis, Skeletal muscle atroph... ORPHA:367
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, Bone-marrow foam c... OMIM:256550
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Mental Retardation, Buenos Aires Type
Hypospadias, Prominent nose, Pectus excavatum, Protruding ear, Pectus carinatum, Hypertelorism, W... OMIM:249630
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Fetal distress, Reduced ejection fraction, Paroxysmal su... ORPHA:45452
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Pes planus, Rimmed vacuoles, Muscular dyst... ORPHA:263494
Craniofaciofrontodigital Syndrome
Pectus excavatum, Depressed nasal bridge, Palmoplantar cutis laxa, Abnormal heart morphology, Sho... OMIM:114620
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Elevated circulating creatine... OMIM:616827
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Ascites, Edema, Decreased fetal movement, Hepatosplenomegaly,... OMIM:608776
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Increased circulating T4 level, De... ORPHA:171706
Pericardial Effusion, Chronic
Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion OMIM:260900
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... ORPHA:280356
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hyperammonemia, Jaundice, Ventricular septal defect, Atrial septal defect... ORPHA:26793
Microcephaly 13, Primary, Autosomal Recessive
Prominent nose, Micrognathia, Small hand, Cardiomyopathy, Short foot, Metaphyseal sclerosis, Micr... OMIM:616051
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Premature birth, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis ORPHA:2123
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hyperammonemia, Decrease... ORPHA:71212
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Micrognathia, EMG: myopathic ab... ORPHA:171442
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased feta... ORPHA:292
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Short femur, Talipes equinovarus, Wide nose, Rhizomelia, Abnormality of the pinna, S... OMIM:607143
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Abnormal circulating creatine kinase concentration, Atrial fibrilla... ORPHA:217607
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... OMIM:602541
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pectus excavatum, Depressed nasal bridge, Abnormal sternum morpholog... OMIM:613224
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Congestive heart failure, Myocardi... OMIM:253250
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Humeroradial synostosi... ORPHA:93333
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Bradycardia, Hyperalaninemia, Left ventricular hypertrophy, Seco... OMIM:614654
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Ventricular septal defect, Double outlet right ventricle, Patent ductus ar... OMIM:618316
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesit... ORPHA:71529
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Vertigo OMIM:614458
Gordon Syndrome
Decreased muscle mass, Pectus excavatum, Talipes, Finger syndactyly, Hearing impairment, Clinodac... ORPHA:376
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Bowing... ORPHA:1860
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... OMIM:300718
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mitochondrial DNA... OMIM:251880
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... ORPHA:363705
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Increased serum iron, Hypogonadotropic hypogonadism, Cardio... OMIM:602390
Frontoocular Syndrome
Pectus excavatum, Micrognathia, Hypotelorism, Prominent nasal bridge, Posteriorly rotated ears, P... OMIM:605321
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Hypertelorism, Brac... ORPHA:1919
Craniofrontonasal Dysplasia
Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,... ORPHA:1520
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Slender build, Facial palsy, Mildly elevated creati... OMIM:161800
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Anomalous p... ORPHA:392
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ca... OMIM:201475
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Downslanted palpebral fissures... ORPHA:3304
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Hyporef... OMIM:609200
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... OMIM:619040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Tapered finger, Hypertelorism, Wide nasal bridge, Pes planus, Posteriorly rotate... OMIM:618147
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Hypoglycemia, Cardiomegaly, Bradycardia, Tetral... OMIM:601005
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Protruding ear, Horizontal crus of helix, Overf... OMIM:618619
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276580
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost... ORPHA:79230
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Atriovent... OMIM:212138
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Mitral valve prolapse, ... OMIM:616564
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Bifid scrotum, Talipes equinovarus, Hearing impairment, Low hanging columella, Penos... OMIM:619148
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Broad nasal tip, Wide nasal bridge, Short palm, Clinodactyly, Microcephaly ORPHA:73273
Gne Myopathy
Abnormal right hemidiaphragm morphology, Absent Achilles reflex, Lower limb amyotrophy, Hip flexo... ORPHA:602
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Acrocapitofemoral Dysplasia
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Coxa vara, C... ORPHA:63446
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Hypertrichosis, Skeleta... ORPHA:528
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Hadziselimovic Syndrome
Ventricular septal defect, Ptosis, Failure to thrive, Ventricular hypertrophy, Epicanthus, Atrial... OMIM:612946
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Femoral-Facial Syndrome
Micrognathia, Rib fusion, Talipes equinovarus, Long penis, Short nose, Microtia, Low-set ears, Co... ORPHA:1988
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Short nose, 11 pairs of ribs, Short... OMIM:108720
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Fetal akinesia sequence, Neonat... ORPHA:85212
Chromosome 3Q29 Deletion Syndrome
Pectus excavatum, Pectus carinatum, Tapered finger, Long fingers, Macrotia, Prominent nasal bridg... OMIM:609425
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Micropenis, Short toe, Short phalanx of finger, Micrognathia, ... OMIM:212720
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small f... ORPHA:324575
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose to... OMIM:614407
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Ventricular tachycardia, Elevated... OMIM:600649
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Short stature, Elevated circulating creat... OMIM:610717
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... DECIPHER:39
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous a... OMIM:612526
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... OMIM:618775
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:611705
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Pectus excavatum, Myopathy, Hypoglycosylation of alpha-dystroglycan, Musc... ORPHA:272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... OMIM:619313
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Talipes equinovarus, Facial diplegia, Long fingers, Generalized amyotrophy, Faci... ORPHA:169186
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Increased adipose tissue, Hypertrophic cardiomyopathy, Ragg... ORPHA:1349
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hypoglycemia, Decreased serum insulin-like growth factor 1, Short stature... OMIM:614921
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Highly arched eyebrow, Type II diabetes mellitus, ... ORPHA:401923
Pentasomy X
Micrognathia, Hypertelorism, Small hand, Wide nasal bridge, Low-set, posteriorly rotated ears, Sh... ORPHA:11
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Single umbilical art... OMIM:220210
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pectus excavatum, Posterior rib fusion, Pulmonary arteri... OMIM:608406
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails
Relative macrocephaly, Pectus excavatum, Macrocephaly, Depressed nasal bridge OMIM:600399
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Pectus carinatum, Tapered finger, Large hands, Wide nose, Hypertelorism ORPHA:276630
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Micrognathia, Facial palsy, Hip contracture OMIM:615959
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis, Tricuspid valv... OMIM:212093
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... OMIM:300257
Lujan-Fryns Syndrome
Macroorchidism, Pectus excavatum, Micrognathia, Prominent nasal bridge, Arachnodactyly, Atrial se... ORPHA:776
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Hypertelorism, Cardiomegaly, Prominent nasal bridge, Tricuspid regurgi... OMIM:618652
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Nemaline Myopathy 1
Pectus excavatum, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, ... OMIM:609284
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, P... ORPHA:79159
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Decreased liver function, Olig... OMIM:617021
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Calcaneovalgus deformity, Pes planus, Genu recurvatum, Bulbous nose, Pulmonary ins... ORPHA:230851
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Pectus carinatum, Hypertelorism, Wide nasal bridge,... ORPHA:261295
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Elevated circulating aspartate aminotransferase concentration, ... OMIM:609015
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Hallux valgus, Talipes equinovarus, Spatulate thumbs, Pes planus, 11 pairs... OMIM:245600
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia OMIM:616276
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Ascites, Splenomegaly, Flexion contracture, Pedal edema, H... ORPHA:87876
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Hypertension, Decreased HDL cholesterol concentration, Chro... OMIM:203800
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Pectus excavatum, Short middle phalanx of finger, Micrognathia, Short 5th toe, Tal... OMIM:211920
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Camptodactyly Syndrome, Guadalajara Type 2
Pectus excavatum, Short 5th toe, Short 2nd toe, Talipes equinovarus, Labial hypoplasia, Hip dislo... ORPHA:1326
Burn-Mckeown Syndrome
Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal bridge, Wide nasal bridge, ... ORPHA:1200
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Overfolded helix, Cervical ribs, M... OMIM:609654
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy, Cryptorchidism OMIM:226000
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:93267
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Pectus excavatum, Short 5th metacarpal, Short nose, Perimembranous... OMIM:617877
X-Linked Lymphoproliferative Disease
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Vasc... ORPHA:2442
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Pes planus, Anteverted nares, Microretrognathia, ... OMIM:618870
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... OMIM:614300
Filippi Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, 2-4 toe syndactyly, Low ... OMIM:272440
Mcdonough Syndrome
Underdeveloped nasal alae, Pectus excavatum, Prominent nose, Aplasia/Hypoplasia of the abdominal ... ORPHA:2471
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, Hyperglycemia, ST segment depression, P... ORPHA:90065
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Mitral regurgitation,... ORPHA:746
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Myopathy, Hypoglyc... OMIM:212140
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Hypergonadotro... OMIM:615084
Fadd-Related Immunodeficiency
Decreased liver function, Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Pectus excavatum, Micrognathia, Skeletal muscle atrophy, Ulnar deviation of finger, ... ORPHA:2013
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Pectus excavatum, Congenital diaphragmatic hernia, Long fingers, Hypertelorism, Abn... OMIM:614294
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Protruding ear, Short long bone,... ORPHA:2256
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nose, Pectus excavatum, Prominent nasal bridge, Macrocephaly, Hearing abnormality, Prot... ORPHA:3270
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreas... OMIM:604367
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated c... OMIM:232400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Short stature, Elevated circulating creatine kinase concent... OMIM:618120
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Pectus excavatum, Hypertelorism, Posteriorly rotated ears OMIM:619548
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Metaphyseal cupping, Depressed nasal bridge, Wide nose, Short nose, Pulmonary arter... OMIM:613320
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... ORPHA:1354
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Arachnodactyly, Pes planus, Transposition of the gre... ORPHA:261243
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Aarskog-Scott Syndrome
Pectus excavatum, Talipes, Hypertelorism, Small hand, Wide nasal bridge, Pes planus, Genu recurva... ORPHA:915
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Pectus excavatum, Micrognathia, Small hand, Wide nasal bridge, Clinoda... OMIM:270450
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Depressed nasal bridge,... OMIM:610733
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar keratoderma, Cardiomyocyte hypertro... OMIM:605676
Carcinoid Syndrome
Right ventricular failure, Facial telangiectasia, Myopathy, Palpitations, Hepatic necrosis, Tricu... ORPHA:100093
Polymyositis
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal muscle fiber morpholo... ORPHA:732
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Dk1-Cdg
Dilated cardiomyopathy, Short stature, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial... ORPHA:91131
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Large earlobe, Pectus excavatum, Shield chest, Depressed nasal bridg... OMIM:613706
Li-Campeau Syndrome
Ventricular septal defect, Ptosis, Telecanthus, Downslanted palpebral fissures, Patent ductus art... OMIM:619189
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Hypoketotic hypoglycemia, Excessive insulin r... ORPHA:276556
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Sensorineural hearing impai... ORPHA:440354
Fragile X Syndrome
Pectus excavatum, Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism,... OMIM:300624
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Protruding ear, Hypertelorism... ORPHA:329224
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Pectus excavatum, Micrognathia, Depressed nasal bridge, Tapered finger, Long fingers... OMIM:616734
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertension, Myopathy, Insulin resistance, Reduced subcutaneous adipose tissue, Re... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Dia... ORPHA:79084
Fetal Trimethadione Syndrome
Ventricular septal defect, Ptosis, Epicanthus, Transposition of the great arteries, Atrial septal... ORPHA:1913
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Prominent nasal bridge, Hearing impairment, Protruding ear, Decreased testicula... ORPHA:85273
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Jaundice, Global systolic dys... ORPHA:57777
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Ventricular septal defect, Short femur, Low-set ears, Foot oligodactyly OMIM:601357
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Pectus excavatum, Depressed nasal bridge ORPHA:1375
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Torticollis, Short metatarsal, Ove... OMIM:609945
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Mitral regurgitation, Hypertelorism, Macroceph... ORPHA:83473
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Leg muscle stiffness, Diabetes mellitus, Distal lower limb muscle weakness, Supra... ORPHA:320360
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Supernumerary ribs, Absent thum... OMIM:612447
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Wide nasal bridge... OMIM:612626
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Myopathy, Skeletal muscle atrophy, E... ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ant... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia, Cardiomegaly, Macrocephaly, Congestive heart failure OMIM:300886
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hallux valgus, Ventricular septal defect, Pectus excavatum, Micrognathia,... OMIM:618348
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... ORPHA:99095
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Decr... OMIM:255320
Shashi-Pena Syndrome
Highly arched eyebrow, Atrial septal defect, Ptosis, Macrocephaly OMIM:617190
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy, Persistent left s... ORPHA:477817
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy, Micrognathia, Depressed nasal bridge, Posteriorly rotated ears, Bulbous n... OMIM:603736
Tatton-Brown-Rahman Syndrome
Narrow palpebral fissure, Atrial septal defect, Blepharophimosis, Macrocephaly OMIM:615879
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Splenomegaly, Lipoatrophy, Diab... ORPHA:79083
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... OMIM:616201
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 level, Bradycardia, Elevated ... ORPHA:95717
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Neutropenia, Pancytopenia, Abnormal ... ORPHA:398124
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Thrombocytopenia, Elevated hepatic... ORPHA:99901
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Insulin resistance, Abnor... OMIM:616541
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Cherry red spot of the macula,... OMIM:230500
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Intrauterine growth retardation, Decreased... ORPHA:320
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Rectovaginal fistula, Hypoplasia of... OMIM:147750
Tyshchenko Syndrome
Ventricular septal defect, Pectus excavatum, Posteriorly rotated ears, Pulmonic stenosis, Atrial ... OMIM:615102
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Splenomegaly, Abnormal heart valve morph... ORPHA:36412
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy, Microcephaly OMIM:212080
Acrocraniofacial Dysostosis
Triphalangeal thumb, Short 1st metacarpal, Anteverted nares, Choanal atresia, Conductive hearing ... ORPHA:949
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Abnormal heart morphology, ... ORPHA:26791
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Premature birth, Neonatal death, Cardiomyopathy, Decreased liver function OMIM:618839
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Cone-shaped epiphysis, Hypotelorism, Abnormality of finger, Abnormality of the ... ORPHA:2511
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Pectus excavatum, Microcephaly ORPHA:261204
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly OMIM:614947
Double Outlet Right Ventricle
Ventricular septal defect, Narrow palpebral fissure, Truncus arteriosus, Failure to thrive, Doubl... ORPHA:3426
Wolcott-Rallison Syndrome
Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventricle, Abnorm... ORPHA:1667
Hemochromatosis, Type 1
Testicular atrophy, Telangiectasia, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma,... OMIM:235200
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Premature birth, Neonatal death, Decrease... OMIM:618835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... OMIM:609286
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hypoplastic Left Heart Syndrome
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... ORPHA:2248
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, Absent frontal ... OMIM:311300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Faciothoracogenital Syndrome
Pectus excavatum, Micrognathia, Prominent scrotal raphe, Anteverted nares, Shawl scrotum, Glandul... OMIM:227320
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Pectus excavatum, Micrognathia, Talipes equinovarus, Pec... OMIM:616145
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Hype... ORPHA:261120
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, L... ORPHA:2348
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Fetal akinesia sequence, Torticollis, Cardiomegaly, Oligohydramnios, O... OMIM:617022
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Microcephaly OMIM:610181
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... OMIM:618805
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Recombinant 8 Syndrome
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Micrognathia, Patellar aplas... ORPHA:96167
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Immunodeficiency 52
Death in infancy, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, ... OMIM:617514
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short nose, Pulmonary arterial hypertension, Hypertelorism, Posteriorly ... OMIM:300887
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Biliary tract obstruction, Pulmonary arterial hypert... ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Cardiomegaly, Anisocytosis, Chronic hem... OMIM:618278
Noonan Syndrome 12
Ventricular septal defect, Pectus excavatum, Supravalvular aortic stenosis, Proximal placement of... OMIM:618624
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hepatosplenomegaly, Acute pancreatitis, Hemolytic anemia, Portal hypert... OMIM:619487
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Decreased fetal movement, Cholelithiasis, Patent ductus arteriosus... OMIM:614886
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Pectus excavatum, Broad nasal tip, 2-3 toe syndactyly, Tapered finger, Flared nos... ORPHA:284180
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Small for gestational age, Abnormal heart morphology, Bilateral ptosis, Up... ORPHA:352490
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Left ventricular systolic dysfunction... OMIM:619167
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, I... ORPHA:90970
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... ORPHA:231214
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Micropenis, Absent knee epiphyses, Short humerus, Femoral bowi... OMIM:210710
Hypertelorism And Tetralogy Of Fallot
Narrow palpebral fissure, Epicanthus, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of... OMIM:239711
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Macrocephaly, Conge... ORPHA:796
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Hallux valgus, 2-3 toe syndactyly, Hearing impairment, Low hanging columella, Broad ... OMIM:618659
Tarp Syndrome
Pectus excavatum, Micrognathia, Talipes equinovarus, Postaxial polydactyly, Hypertelorism, Wide n... OMIM:311900
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral regurgitation, Mitral valve calcification, Short stature, Glucose intoleranc... OMIM:619127
Subaortic Stenosis--Short Stature Syndrome
Pectus excavatum, Shield chest, Broad finger, Short nose, Broad toe, Wide nasal bridge, Small han... OMIM:271960
Coffin-Siris Syndrome 10
Ventricular septal defect, Epicanthus, Microcephaly OMIM:618506
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Hyperglyc... ORPHA:391673
Noonan Syndrome With Multiple Lentigines
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Hypertrophic cardiomyopathy, A... ORPHA:500
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Patent ductus arteriosus, ... ORPHA:1880
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Short clavicles, Mitral regurgitation, Down-sloping shoulders, Hypergonad... OMIM:212112
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Metatarsus valgus, Talipes e... ORPHA:261236
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short 3rd metacarpal, Depressed nasal bridge, Rounded epiphyses, Hyperteloris... OMIM:255980
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Myocardial infarct... OMIM:610947
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Hamamy Syndrome
Pectus excavatum, Micrognathia, Mitral regurgitation, Tapered finger, Long fingers, Hypertelorism... OMIM:611174
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertension, Myopathy, Insulin resistance, Insulin-resistant diabetes mellitus, Ab... ORPHA:79086
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pectus excavatum, Large fleshy ears, Overfolded helix, Hypertelorism, Arachnodactyly, Pes cavus, ... OMIM:619092
Saul-Wilson Syndrome
Pectus excavatum, Convex nasal ridge, Micrognathia, Talipes equinovarus, Pectus carinatum, Short ... OMIM:618150
8Q12 Microduplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Epicanthus, Telecanthus, Long palpebral fissure... ORPHA:228399
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Micrognathia, Palmoplan... OMIM:605275
Megalencephaly
Macroorchidism, Long penis, Wide nasal bridge, Genu valgum, Atrial septal defect, Macrocephaly, D... ORPHA:2477
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Abnormal pulmonary vein morphology, Pulmonary ed... ORPHA:199241
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Limb undergrowth, Microcephaly, Proptosis, Massively thickened long bone cortic... OMIM:122900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Thin ribs, Wide nose, Hypertelorism, Cardiomegaly, Long foot, Arachnodactyly, M... ORPHA:2463
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Wide nose, Hypertelorism, Pulmonic stenosis, Hearing i... ORPHA:251076
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Ventricular septal defect, Laterally extended eyebrow, Upslanted palpebral... OMIM:600987
Endocardial Fibroelastosis
Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Low-set, posteriorly rotate... ORPHA:2022
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Sparse eyelashes, Epicanthus, Downslanted palpebral fissures, Sparse e... OMIM:616901
X-Linked Intellectual Disability, Hedera Type
Absent Achilles reflex, Hyporeflexia of lower limbs, Pes planus, Left ventricular hypertrophy, Hy... ORPHA:93952
Prune Belly Syndrome
Urethral valve, Pectus excavatum, Talipes equinovarus, Congenital posterior urethral valve, Pectu... OMIM:100100
3Q13 Microdeletion Syndrome
Hypertelorism, Wide nasal bridge, Macrocephaly, Narrow chest, Anteverted nares, Cryptorchidism, H... ORPHA:1621
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Progressive microcephaly, Flexion contracture, Inguinal hernia, Microcephaly OMIM:614498
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Broad hallux phalanx, Abnormal muscle fiber morphology, 1-3 toe syndactyly, Broad th... OMIM:175700
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios ORPHA:3469
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers re... OMIM:255310
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Syndactyly, Short humerus, Finger clin... OMIM:142900
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect OMIM:263630
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Umbilical hernia, Neonatal hyperbilirubinemia, Increased radio... ORPHA:95716
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypertelorism, Low-set, posteriorly rotated ears, Hypoplastic left hea... ORPHA:2772
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Pectus excavatum, Toe syndactyly, Depressed nasal bridge, Pectus carinatum, Short ... ORPHA:1327
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, 2-3 toe syndactyly, Ventricular arrhythmia, Cl... ORPHA:37553
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Increased head circumference, Upper limb undergrowth, Micrognathia, Sma... ORPHA:94068
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Ventricular septal defect, Narrow nose, Pectus excavatum, Long nose, Congenital diap... OMIM:617602
Pituitary Gigantism
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... ORPHA:99725
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Acrocraniofacial Dysostosis
Metatarsus adductus, Pectus excavatum, Micrognathia, Abnormal auditory evoked potentials, Conduct... OMIM:201050
Teebi-Shaltout Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Broad nasal tip, Pectus excavatum, Metatars... OMIM:272950
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Intrauterine growth retardation, Hyperglutaminemia, Elevated circulating creatine k... OMIM:619355
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Micrognathia, Hypertelorism, Cardiomyopathy, Left ventricular h... OMIM:242840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... OMIM:608971
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed p... OMIM:616033
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598