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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:
PTP2C,  PTP1D,  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
Double outlet right ventricle, Failure to thrive, Pulmonic stenosis, Tetralogy of Fallot, Ventric... OMIM:601127
7P22.1 Microduplication Syndrome
Macrocephaly, Hypertelorism, Abnormality of the outer ear, Cryptorchidism, Abnormal heart morphology ORPHA:314034
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Noonan Syndrome 11
Low-set ears, Bulbous nose, Pectus excavatum, Atrial septal defect, Relative macrocephaly, Pulmon... OMIM:618499
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... ORPHA:101028
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy,... ORPHA:206546
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Decreased body weight, Short stature, Microcephaly, Dilated ... OMIM:618097
Catel-Manzke Syndrome
Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Radial deviation of the 2... ORPHA:1388
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Hepatomegaly, Pancreatitis, Lip... ORPHA:280365
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Short nose, Thoracic hypoplasia, Cardiomegaly, Flexion contracture, Sh... OMIM:616897
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, H... OMIM:619048
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... ORPHA:435660
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect,... OMIM:601348
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhiz... OMIM:601560
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap OMIM:251220
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Chromosome 16P13.3 Duplication Syndrome
Protruding ear, Pectus excavatum, Atrial septal defect, Bulbous nose, Short toe, Pes cavus, Short... OMIM:613458
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Ven... ORPHA:1937
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary ... ORPHA:90308
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Incr... ORPHA:1041
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the am... OMIM:608540
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Arthrogryposis m... OMIM:232500
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Pectus excavatum, Hypertelorism, Micropenis, Overfolded helix, Small h... OMIM:614684
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Microcephaly, Ventricular septal defect, Dilated cardiomyopathy, ... ORPHA:2515
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased adiponectin level, Skeletal muscle hypertro... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... ORPHA:163596
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... OMIM:605362
Congenital Disorder Of Glycosylation, Type Iig
Hypertelorism, Talipes equinovarus, Microtia, Small hand, Left ventricular hypertrophy, Hypospadi... OMIM:611209
Sensorineural Deafness With Dilated Cardiomyopathy
Recurrent infections of the middle ear, Dilated cardiomyopathy, Hearing impairment, Abnormal card... ORPHA:217622
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Deeply set eye, Cerebral hemorrhage, Hypergonadotropic hypogonadism, Abnormality of... OMIM:300845
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Nephrosialidosis
Ascites, Pericardial effusion, Bone-marrow foam cells OMIM:256150
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Pes cavus, Type 1 musc... OMIM:160500
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila... ORPHA:154
Noonan Syndrome 8
Low-set ears, Abnormal sternum morphology, Atrial septal defect, Hypertelorism, Relative macrocep... OMIM:615355
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... OMIM:231100
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Brachydactyly, Abnormal atrioventricular conduction, Abn... ORPHA:168796
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... OMIM:610140
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Cantu Syndrome
Narrow chest, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Macrocephaly, Broa... OMIM:239850
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Macrocephaly, Pectus excavatum, Spindle-shaped finger, Cutaneous... ORPHA:166024
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Aplasia of the phalanges of the 3rd toe, Dila... ORPHA:2229
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... OMIM:613751
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive h... OMIM:269920
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Non-Distal Trisomy 10Q
Pectus excavatum, Hypertelorism, Convex nasal ridge, Depressed nasal bridge, Microcephaly, Microg... ORPHA:1695
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Areflexia of lower limbs, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy... OMIM:619903
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase c... OMIM:616827
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pectus excavatum, Hypertelorism, Pulmonic stenosis, Brachydactyly, Low-set, posteriorly rotated e... ORPHA:2701
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Small for gestational age, Left ventricular hy... OMIM:616733
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, External genital hypoplasia, Postaxial hand polydact... OMIM:615981
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Pectus excavatum, Talipes equinovarus, Facial palsy, Pes cavus, Type 1 muscle fi... OMIM:617336
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Prelingual sensorineural hearing impairment, Vestibular dysfunction OMIM:618632
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Flexion contracture, He... ORPHA:367
Mcdonough Syndrome
Diastasis recti, Pectus excavatum, Aortic valve stenosis, Atrial septal defect, Hypertelorism, Pu... OMIM:248950
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardi... OMIM:617713
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Low-set ears, Deeply set eye, Cerebral hemorrhage, Hypergonadotropic hypogonadis... ORPHA:280679
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated ci... OMIM:300718
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Weakness of facial musculature, Elevated hepatic transaminase, Polyhydramni... OMIM:619967
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Severe short stature, Lower limb hypertonia, Left ventricular... ORPHA:3208
Myopathy, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EM... OMIM:255160
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Bone-ma... OMIM:256550
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Low-set ears, Pectus excavatum, Atrial septal defect, Hyperteloris... OMIM:179613
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Micrognathia, Frontalis muscle weakness, Dil... OMIM:300580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... OMIM:613156
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, Dil... ORPHA:206559
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... OMIM:618164
Mental Retardation, Buenos Aires Type
Low-set ears, Protruding ear, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th fin... OMIM:249630
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis OMIM:260900
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Macrocephaly, Hepatomegaly, Ventricular septal defect, Increased circulating free fatty acid leve... ORPHA:26793
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Hyporeflexia of lower limbs, Third degr... OMIM:601419
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... ORPHA:217607
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... OMIM:161800
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... OMIM:608776
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Secondary microcephaly, Intrauterine growth retard... OMIM:614654
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Craniofaciofrontodigital Syndrome
Low-set ears, Pectus excavatum, Macrocephaly, Hypoplastic vertebral bodies, Depressed nasal bridg... OMIM:114620
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Macrocephaly, Atrial septal defect, Tetralogy of Fallot, Pulmonary... OMIM:618316
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Pes ... ORPHA:263494
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Hydrops fetalis, Ascites, Cardiomega... OMIM:253250
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Micrognathia, Increased varia... ORPHA:171442
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth ORPHA:2123
Congenital Enterovirus Infection
Hepatic failure, Hydrops fetalis, Premature birth, Myocarditis, Cholestasis, Hypotension, Pericar... ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... OMIM:212138
Thanatophoric Dysplasia Type 1
Narrow chest, Macrocephaly, Atrial septal defect, Short femur, Depressed nasal bridge, Femoral bo... ORPHA:1860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Proportionate short stature, Intrauterine growth ret... ORPHA:71212
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... OMIM:619040
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Micropenis, Sho... OMIM:607143
Gordon Syndrome
Pectus excavatum, Clinodactyly of the 5th finger, Cryptorchidism, Camptodactyly of finger, Hearin... ORPHA:376
Noonan Syndrome 6
Sensorineural hearing impairment, Low-set ears, Pectus excavatum, Abnormal sternum morphology, Hy... OMIM:613224
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Microcephaly, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial p... OMIM:602541
Holt-Oram Syndrome
Abnormal clavicle morphology, Pectus excavatum, Anomalous pulmonary venous return, Absent thumb, ... ORPHA:392
Pelviscapular Dysplasia
Low-set ears, Abnormal pinna morphology, Deeply set eye, Macrocephaly, Mesomelic leg shortening, ... ORPHA:93333
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Pectus excavatum, Depressed nasal ridge, Down-sloping shoulders, Sa... ORPHA:1520
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Severe failure to thrive, Pulmonic stenosis,... ORPHA:3304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Elevated circulati... OMIM:608099
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... OMIM:602390
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Multiple lipomas, Ragged-red muscle fibers, Dilated cardiomyopathy, Inc... ORPHA:1349
Frontoocular Syndrome
Pectus excavatum, Atrial septal defect, Hypotelorism, Pulmonic stenosis, Micrognathia, Proptosis,... OMIM:605321
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Hypothyroidism, Paten... OMIM:601005
Fetal Gaucher Disease
Hepatomegaly, Flexion contracture, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnorm... ORPHA:85212
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, ... OMIM:618120
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Low-set ears, Hypospadias, Microcephaly, Brachydactyly, Tetralo... ORPHA:1919
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Microcephaly, Joint contracture of the 5th finger, Impair... OMIM:614407
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypertriglycerid... OMIM:610717
Myopathy, Myofibrillar, 3
Hyporeflexia of lower limbs, Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles t... OMIM:609200
Congenital Generalized Lipodystrophy
Failure to thrive, Hypertrichosis, Low anterior hairline, Hyperinsulinemia, Hepatomegaly, Precoci... ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Exercise-induce... OMIM:201475
Weiss-Kruszka Syndrome
Horizontal crus of helix, Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, ... OMIM:618619
Noonan Syndrome 10
Mitral stenosis, Low-set ears, Pectus excavatum, Atrial septal defect, Hypertelorism, Relative ma... OMIM:616564
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Macrocephaly, Hypertelorism, Broad nasal tip, Tapered finger, Pes planus, Thick nasal alae, Low-s... OMIM:618147
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... ORPHA:79230
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase ... OMIM:615418
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Broad nasal tip, Microcephaly, Clinodactyly, Short palm, Wide nasal bridge ORPHA:73273
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Elevated circulating aspartate aminotransferase concentration... OMIM:614921
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Low-set ears, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of... ORPHA:1988
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Ventricular septal defect, Bradycardia, Persistent left superior vena cava, Hyper... OMIM:618775
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Muscular Dystrophy, Fukuyama Type
Pectus excavatum, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystroph... ORPHA:272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Hadziselimovic Syndrome
Failure to thrive, Atrial septal defect, Microcephaly, Tetralogy of Fallot, Pulmonary artery atre... OMIM:612946
Chromosome 13Q33-Q34 Deletion Syndrome
Distally placed thumb, Cutaneous syndactyly, Tapered finger, Deeply set eye, Talipes equinovarus,... OMIM:619148
Pentasomy X
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Small hand, Micrognathia, Cam... ORPHA:11
Acrocapitofemoral Dysplasia
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Macrocephaly, Pectus excavatum, Abnorm... ORPHA:63446
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Short stature, Renovascular hypertension, Overw... ORPHA:401923
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Chromosome 3Q29 Deletion Syndrome
Pectus excavatum, Clinodactyly of the 5th finger, Microcephaly, Pectus carinatum, Tapered finger,... OMIM:609425
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Proptosis, Short nose, ... OMIM:108720
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Low-set ears, Atrial septal defect, Tricuspid regurgitation, Hy... OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Left ventricular hypertrophy, Elevated hepatic trans... OMIM:616974
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... ORPHA:56304
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Short s... OMIM:612526
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Tapered finger, Pectus carinatum, Large hands, Wide nose, Hypertelorism ORPHA:276630
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Protruding ear, Talipes equinovarus, Left ventricular hypertrop... ORPHA:169186
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Atrial septal defect OMIM:614249
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails
Macrocephaly, Depressed nasal bridge, Pectus excavatum, Relative macrocephaly OMIM:600399
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Ketotic hypoglycemia, Decrea... ORPHA:79159
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Cardiac-Valvular Ehlers-Danlos Syndrome
Bulbous nose, Pectus excavatum, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sand... ORPHA:230851
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... OMIM:617021
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy, Micrognathia OMIM:615959
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Posterior rib fusion, Ventr... OMIM:608406
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly ORPHA:2204
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Pectus excavatum, Flexion contracture, EMG: myopathic abnormali... OMIM:609284
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Depressed nasal bridge, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, 11 pa... OMIM:245600
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibr... OMIM:212140
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hypoplastic left heart, Bradycardia OMIM:616276
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Microcephaly, Elevated circulating creatine kinase concentration,... OMIM:615084
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Skeletal ... ORPHA:87876
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... OMIM:609015
Lujan-Fryns Syndrome
Protruding ear, Pectus excavatum, Atrial septal defect, Macrocephaly, Arachnodactyly, Micrognathi... ORPHA:776
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... OMIM:604367
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Macrocephaly, Finger joint hypermobility, Depressed nasal bridge, Monkey wrench... OMIM:618870
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Macrocephaly, Atrial septal defect, Microtia, Depressed nasal bri... ORPHA:261295
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Short stature, Proximal muscle weakness in lower limb... ORPHA:171706
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy, Decreased fe... OMIM:616816
Coffin-Siris Syndrome 7
Low-set ears, Bicuspid aortic valve, Pectus excavatum, Convex nasal ridge, Clinodactyly of the 5t... OMIM:618027
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular... ORPHA:746
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Hypertelorism, Promine... ORPHA:1200
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Pectus excavatum, Macrocephaly, Radioulnar synostosis, Hearing abnormality, Promi... ORPHA:3270
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Martsolf Syndrome 1
Pectus excavatum, Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Pectus car... OMIM:212720
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Camptodactyly Syndrome, Guadalajara Type 2
Labial hypoplasia, Pectus excavatum, Talipes equinovarus, Microcephaly, Camptodactyly of finger, ... ORPHA:1326
Camptodactyly Syndrome, Guadalajara, Type Ii
Labial hypoplasia, Pectus excavatum, Hypotelorism, Talipes equinovarus, Micrognathia, Camptodacty... OMIM:211920
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... OMIM:203800
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Diabetes mellitus, Distal lower limb muscle we... ORPHA:320360
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Vertigo, Microcephaly OMIM:614458
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar keratode... OMIM:605676
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Deeply set eye, Short stature, Elevated circulating creatine kinase... OMIM:232400
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Microtia, Overfolded helix, Cupped ear, Microcephaly, Pectus carinatum, Ventric... OMIM:609654
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Pectus excavatum, Prominent sternum, Clinodactyly of... OMIM:617877
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Chondrocalcinos... ORPHA:732
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Low-set ears, Abnormal clavicle morphology, Micrognathia, Ventricular septal defect... ORPHA:93267
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Protruding ear, Pectus excavatum, Hypospadias, Microcephaly, Micr... ORPHA:2013
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoketotic hypoglycemia, Dilated ... OMIM:610768
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Hypertelorism, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Mi... ORPHA:2256
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Mcdonough Syndrome
Protruding ear, Pectus excavatum, Hypertelorism, Micrognathia, Aplasia/Hypoplasia of the abdomina... ORPHA:2471
Carcinoid Syndrome
Tricuspid regurgitation, Right ventricular failure, Palpitations, Heart murmur, Elevated hepatic ... ORPHA:100093
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Arachnodactyly, Tetralogy of Fallot, Ventricular septal d... ORPHA:261243
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Macrocephaly, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulat... ORPHA:42
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Broad clavicles... OMIM:619698
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Metaphyseal cupping, Short ribs, Microtia, Depressed nasal bridge, Iliac crest serr... OMIM:613320
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Hypertelorism, Pectus excavatum, Posteriorly rotated ears OMIM:619548
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Hypertelorism, Protr... ORPHA:329224
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... ORPHA:363400
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Noonan Syndrome 4
Thickened helices, Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphol... OMIM:610733
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Macrocephaly, Mitral regurgitation, Abnormal nasal morphology... ORPHA:83473
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Insulin-Like Growth Factor I, Resistance To
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Deeply set eye, Small hand,... OMIM:270450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Overfolded helix, Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of ... OMIM:609945
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Li-Campeau Syndrome
Atrial septal defect, Thick eyebrow, Ventricular septal defect, Downslanted palpebral fissures, T... OMIM:619189
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micr... OMIM:618278
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Noonan Syndrome 7
Large earlobe, Low-set ears, Pectus excavatum, Atrial septal defect, Macrocephaly, Pulmonic steno... OMIM:613706
Dk1-Cdg
Failure to thrive, Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fib... ORPHA:91131
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Depressed nasal bridge, Pectus excavatum ORPHA:1375
Aarskog-Scott Syndrome
Pectus excavatum, Hypertelorism, Clinodactyly of the 5th finger, Genu recurvatum, Finger syndacty... ORPHA:915
X-Linked Intellectual Disability, Abidi Type
Protruding ear, Pectus excavatum, Microcephaly, Decreased testicular size, Hearing impairment, Pr... ORPHA:85273
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Sensorineural hearing impairment, Short femur, Micrognathia, Femoral bowing, Metaph... ORPHA:440354
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Hyper... ORPHA:99901
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Weakness of facial musculature, Microcephaly, Elevated circulatin... ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Macroorchidism, Macrotia, Cardiomegaly, Congestive heart failure OMIM:300886
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Macroglossia, Elevated circulating thyroid-stimulating ho... ORPHA:95717
Fetal Trimethadione Syndrome
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, T... ORPHA:1913
Gm1-Gangliosidosis, Type I
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Dilated cardiomyopath... OMIM:230500
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Splenome... ORPHA:79083
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Jaundice, Failu... ORPHA:231226
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia... OMIM:612447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fib... OMIM:609286
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Ventricular septal defect, Low-set ears, Foot oligodactyly OMIM:601357
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... OMIM:616201
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Galloway-Mowat Syndrome 7
Pectus excavatum, Arachnodactyly, Micrognathia, Microcephaly, Partial duplication of thumb phalan... OMIM:618348
Cutis Laxa, Autosomal Recessive, Type Iie
Pectus excavatum, Convex nasal ridge, Clinodactyly of the 5th finger, Broad nasal tip, Brachydact... OMIM:619451
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Cardiac Lipidosis, Familial
Microcephaly, Cardiomyopathy, Congestive heart failure OMIM:212080
Chromosome 15Q26-Qter Deletion Syndrome
Abnormal cardiac septum morphology, Low-set ears, Talipes equinovarus, Micropenis, Hypospadias, M... OMIM:612626
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Pectoralis major hypoplasia, Limited interphala... OMIM:147750
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Tyshchenko Syndrome
Narrow chest, Low-set ears, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Ventricula... OMIM:615102
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Microvesicular hepatic steatosis, Postnatal growth retardation, ... OMIM:610198
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Decreased body weight, Hepatome... ORPHA:1667
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Arrhythmia, Acute pancreatitis, Elevated hepatic transami... ORPHA:26791
Faciothoracogenital Syndrome
Prominent scrotal raphe, Pectus excavatum, Micrognathia, Glandular hypospadias, Shawl scrotum, An... OMIM:227320
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... OMIM:255310
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Pectus excavatum, Talipes equinovarus, Proximal muscle weakness in lower limbs, ... OMIM:615290
Fragile X Syndrome
Pectus excavatum, Macrocephaly, Metacarpophalangeal joint hyperextensibility, Mitral valve prolap... OMIM:300624
Neonatal Lupus Erythematosus
Abnormality of the liver, Neutropenia, Hepatomegaly, Macrocephaly, Splenomegaly, Hepatic failure,... ORPHA:398124
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Ohdo Syndrome, Sbbys Variant
Bulbous nose, Cryptorchidism, Depressed nasal bridge, Microcephaly, Micrognathia, Dilated cardiom... OMIM:603736
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascite... ORPHA:36412
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Short Stature, Microcephaly, And Endocrine Dysfunction
Disproportionate short-limb short stature, Deeply set eye, Lymphopenia, Sparse hair, Inguinal her... OMIM:616541
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... OMIM:306955
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Microcephaly, Pectus excavatum ORPHA:261204
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Bulbous nose, Pectus excavatum, Atrial septal defect, Hypertelorism, Clinodactyly of the 5th fing... OMIM:617061
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Weight loss, Pericarditis, Intrauterine growth retardation, Hypothyroidism, Elevate... OMIM:619487
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the ear, Pectus excavatum, Hypotelorism, Abnormality of finger, Large iliac wing, ... ORPHA:2511
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Aicardi-Goutieres Syndrome 2
Microcephaly, Lymphocytosis OMIM:610181
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Premature birth OMIM:618839
Shashi-Pena Syndrome
Highly arched eyebrow, Macrocephaly, Atrial septal defect, Ptosis OMIM:617190
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Splenomega... ORPHA:90970
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Short 1st metacarpal, Tapered finger, Ulnar deviatio... ORPHA:949
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating re... ORPHA:320
Lethal Congenital Contracture Syndrome 10
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Overriding aorta, Fetal... OMIM:617022
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Hepatomegaly, Cellulitis, Splenomegaly, Pancreatitis, Skeleta... ORPHA:2348
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Noonan Syndrome 12
Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Proximal plac... OMIM:618624
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Pectus excavatum, Hypertelorism, Deeply set eye, Hypotelorism, Congenital diaphragm... OMIM:612530
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy,... OMIM:618835
14Q11.2 Microdeletion Syndrome
Deeply set eye, Toe clinodactyly, Depressed nasal bridge, Micrognathia, Low-set, posteriorly rota... ORPHA:261120
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia, Elevated ... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Obesity, Microcephaly, Ventricular septal hypertrophy OMIM:614947
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalan... OMIM:311300
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Recombinant 8 Syndrome
Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Hypertelorism,... ORPHA:96167
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hype... OMIM:300887
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Sparse hair, Flexion contracture, Tricuspid regurgitation, Spa... OMIM:619127
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Short clavicles, Hypergonadotropic hypogonadism, Mitral regurgitation, Down-sloping shoulders, Di... OMIM:212112
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract obstruction, Pedal edema, Ascites, Abnormal ... ORPHA:77259
Sandhoff Disease
Failure to thrive, Macrocephaly, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Conge... ORPHA:796
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy OMIM:619688
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Proptosis, Ab... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Pectus excavatum, Cone-shaped epiphysis, Tapered finger, Broad hallux, Micrognathia, Hallux valgu... OMIM:618659
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... ORPHA:2248
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... OMIM:619167
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Pectus excavatum, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Small han... ORPHA:284180
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Joint contracture of the hand, Short palpebral fissure, Small for gestation... ORPHA:352490
Andersen-Tawil Syndrome
Bulbous nose, Bidirectional ventricular ectopy, Prolonged QT interval, Torsade de pointes, Abnorm... ORPHA:37553
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Microcephaly, Progressive microcephaly, Bradycardia OMIM:614498
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Peritonitis, Hypotension, Thrombocytopenia, Shock, Brady... ORPHA:391673
Catel-Manzke Syndrome
Low-set ears, Abnormal pinna morphology, Pectus excavatum, Clinodactyly of the 5th finger, Talipe... OMIM:616145
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Coffin-Siris Syndrome 10
Ventricular septal defect, Epicanthus, Microcephaly OMIM:618506
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Pectus excava... OMIM:618150
Double Outlet Right Ventricle
Double outlet right ventricle, Failure to thrive, Hypoplastic left heart, Pulmonic stenosis, Coar... ORPHA:3426
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Tarp Syndrome
Low-set ears, Pectus excavatum, Short sternum, Talipes equinovarus, Microtia, Hypoplasia of the r... OMIM:311900
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hyporeflexia of lower limbs, Pes planus, Calcaneovalgus deformity, ... ORPHA:93952
8Q12 Microduplication Syndrome
Atrial septal defect, Long palpebral fissure, Ventricular septal defect, Telecanthus, Epicanthus,... ORPHA:228399
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Noonan Syndrome 2
Mitral stenosis, Low-set ears, Pectus excavatum, Abnormal sternum morphology, Atrial septal defec... OMIM:605275
Megalencephaly
Deeply set eye, Atrial septal defect, Macrocephaly, Long penis, Genu valgum, Wide nasal bridge, M... ORPHA:2477
8P23.1 Duplication Syndrome
Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hearing impair... ORPHA:251076
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Myocardial... OMIM:610947
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... ORPHA:254892
Noonan Syndrome With Multiple Lentigines
Abnormal mitral valve morphology, Pectus excavatum, Atrioventricular canal defect, Aplasia/Hypopl... ORPHA:500
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Low-set ears, Pectus excavatum, Atrial septal defect, Talipes e... ORPHA:261236
3Q13 Microdeletion Syndrome
Narrow chest, Macrocephaly, Hypertelorism, Hypoplasia of penis, Anteverted nares, Cryptorchidism,... ORPHA:1621
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Low-set ears, Pectus excavatum, Overfolded helix, Arachnodactyly, Microcephaly... OMIM:619092
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Barth Syndrome
Deeply set eye, Talipes equinovarus, Tricuspid regurgitation, Arrhythmia, Increased left ventricu... OMIM:302060
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
Intellectual Developmental Disorder, Autosomal Dominant 53
Hypotelorism, Macrocephaly, Microtia, Micropenis, Short femur, Microcephaly, Ventricular septal d... OMIM:617798
Subaortic Stenosis--Short Stature Syndrome
Short palm, Short toe, Pectus excavatum, Membranous subvalvular aortic stenosis, Small hand, Barr... OMIM:271960
Teebi-Shaltout Syndrome
Low-set ears, Ulnar deviation of the hand, Pectus excavatum, Aortic valve stenosis, Talipes equin... OMIM:272950
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... ORPHA:98912
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Massively thickened long bone cortices, Microcephaly, Brachydactyly, Micromelia... OMIM:122900
Ferguson-Bonni Neurodevelopmental Syndrome
Pectus excavatum, Congenital diaphragmatic hernia, Stenosis of the external auditory canal, Micro... OMIM:619699
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Mucosal telangiectasiae, Hypoplasia of the musculature, Thin ribs, Abnormality ... ORPHA:2463
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Hypertelorism,