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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
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
7P22.1 Microduplication Syndrome
Hypertelorism, Cryptorchidism, Abnormal heart morphology, Macrocephaly, Abnormality of the outer ear ORPHA:314034
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni... OMIM:619433
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Noonan Syndrome 11
Relative macrocephaly, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Pectus ex... OMIM:618499
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Coarctatio... ORPHA:101028
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Micrognath... ORPHA:1388
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Micrognathia, Beaded ribs, Flexion contracture, Large fleshy ears, Micropenis, Ante... OMIM:616897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... ORPHA:280365
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy,... ORPHA:206546
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Elevated circulating aspart... OMIM:619048
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly OMIM:251220
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Short stature, Microcephaly, Dilated cardiomyopathy, Decreas... OMIM:618097
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... ORPHA:1937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Glycogen Storage Disease Iv
Decreased fetal movement, Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hy... OMIM:232500
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor... OMIM:608540
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion ORPHA:48686
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Hypertelorism, Pericardial effusion, Cryptorchidism, Clinodactyly, Pec... OMIM:614684
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the ... ORPHA:2515
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... OMIM:605362
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Recurrent infections of the midd... ORPHA:217622
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Scapular winging, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Posterio... OMIM:300280
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila... ORPHA:154
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... OMIM:231100
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Noonan Syndrome 8
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Palmoplantar cut... OMIM:615355
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Abnormal foot morphology, Dila... ORPHA:168796
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypertelorism, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum,... ORPHA:166024
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... OMIM:610140
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy... OMIM:253300
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... OMIM:269920
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... OMIM:618815
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... ORPHA:2229
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased ... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Pectus excavatum, Cardiomyop... OMIM:617336
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... ORPHA:3208
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Areflexia of lower limbs, Distal lower limb muscle... OMIM:619903
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelor... ORPHA:1695
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Lipodystrophy, Hypertrigly... OMIM:613327
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Pectus excavatum, Bulbous nose, Hypotelorism, Low-set ear... OMIM:618330
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ... ORPHA:367
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... OMIM:616827
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Thoracic sco... OMIM:255160
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyo... OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Abnormal vestibular function, Prelingual sensorineural hearing impa... OMIM:618632
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Hypertelorism, Dilated cardiomyop... ORPHA:280679
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, H... OMIM:614702
Congenital Myopathy 11
Elevated hepatic transaminase, Decreased fetal movement, Polyhydramnios, Breech presentation, Pat... OMIM:619967
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Brachydactyly, Anteverted nares, Hypertelorism, Pectus excavat... ORPHA:2701
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... OMIM:616733
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... ORPHA:555874
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... OMIM:300718
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Deeply set eye, Atrial septal defect, Patent foramen oval... OMIM:618316
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed na... OMIM:179613
Myopathy, Myofibrillar, 1
Hyporeflexia of lower limbs, Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, ... OMIM:601419
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Micrognathia, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller th... OMIM:300580
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... OMIM:608776
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Conductive hearing impairment, Rhizomelia, Anteverted nares, Hy... OMIM:611209
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... ORPHA:185
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee fle... OMIM:619040
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... OMIM:253250
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Depressed nasal ridge, Clinodactyl... ORPHA:1520
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Hypertelorism, Abnormal hand morp... OMIM:300845
Thanatophoric Dysplasia Type 1
Brachydactyly, Short femur, Bowing of the long bones, Depressed nasal bridge, Micromelia, Hypopla... ORPHA:1860
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hepatic... ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Microcephaly, Cryptorchidism, Flexion contra... OMIM:613156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... OMIM:201475
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Adult-Onset Nemaline Myopathy
Micrognathia, Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper ... ORPHA:171442
Dpm3-Cdg
Pes planus, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle mu... ORPHA:263494
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased adipose tissue, Congestive heart failure, Dilated cardiomyopa... ORPHA:1349
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres... OMIM:212138
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... ORPHA:363705
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Legius Syndrome
Posteriorly rotated ears, Micrognathia, Hypertelorism, Pectus excavatum, Supravalvar pulmonary st... OMIM:611431
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Shor... OMIM:618120
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Noonan Syndrome 6
Depressed nasal bridge, Hypertelorism, Pectus excavatum, Cryptorchidism, Sensorineural hearing im... OMIM:613224
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Arthrogr... OMIM:615731
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Telangiec... OMIM:212112
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Hypotelorism, P... OMIM:605321
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Pelviscapular Dysplasia
Brachydactyly, Congenital hip dislocation, Abnormal pinna morphology, Short femur, Hypoplastic sc... ORPHA:93333
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Microcephaly, Bradycardia, Hypertrophic cardiomyopathy, Failure to ... OMIM:618235
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Overriding aorta, Microcephaly, Patent ductus arteriosus, Severe failure to th... ORPHA:3304
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Talipes, Pectus excavatum, Cry... ORPHA:376
Phenobarbital Embryopathy
Hypospadias, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal base norp... ORPHA:1919
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Long eyebrows, Microcephaly, Atrioventricular block, Growth delay, Gl... OMIM:614407
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... ORPHA:85212
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Broad nasal tip, Microcephaly, Pectus excavatum, Wide nasal bridge, Short palm, Clinodactyly ORPHA:73273
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Chromosome 3Q29 Deletion Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Tapered finger, Long fingers, Pec... OMIM:609425
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Proximal placement of thumb... OMIM:618619
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... ORPHA:79230
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... OMIM:614921
Pentasomy X
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Hypertelo... ORPHA:11
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Dilated cardi... ORPHA:272
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fib... OMIM:609200
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem... ORPHA:528
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Microcephaly OMIM:614249
Coenzyme Q10 Deficiency, Primary, 5
Secondary microcephaly, Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased lev... OMIM:614654
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Elevated circulat... OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabet... ORPHA:324575
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Hypoplastic cervical vertebrae, ... ORPHA:56304
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Micrognathia, Deeply set eye, Narrow chest, Distally placed thumb, Hypospadias, Ta... OMIM:619148
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Long penis, Abnormal rib morphology, Rib fusion, Coxa ... ORPHA:1988
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Noonan Syndrome 10
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Pectus excavatu... OMIM:616564
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Highly arched eyebrow, Thick hair, Ov... ORPHA:401923
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Atrial septal defect, Tricus... ORPHA:230851
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Hypertelorism, Pectus excavatum, Tapered finger, Pectus carinatum, Large hands ORPHA:276630
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,... ORPHA:63446
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ... ORPHA:87876
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Pectus carina... OMIM:245600
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... OMIM:616276
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri... OMIM:252011
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen ovale, Microretrogna... OMIM:618870
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Hadziselimovic Syndrome
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Microcephaly, Tetralogy of Fallot... OMIM:612946
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Pectus excavatum, Nemaline bodies, Flexion contracture, Facial dipl... OMIM:609284
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Hyperte... OMIM:618652
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Pes planus, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Wide nasal ... OMIM:618147
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen oval... OMIM:601005
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... ORPHA:59135
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplas... OMIM:108720
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... ORPHA:171706
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hypoplastic le... OMIM:220210
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Thickened helices, ... ORPHA:261295
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Primary microcephaly OMIM:620145
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili... OMIM:212720
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Hypertelorism, Pectus excavatum, Wi... OMIM:607131
Coffin-Siris Syndrome 7
Brachydactyly, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated e... OMIM:618027
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypergonado... OMIM:203800
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Lujan-Fryns Syndrome
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Pe... ORPHA:776
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nasal bridge, Prominent nose, Pectus excavatum, Hearing abnormality, Protruding ear, Ra... ORPHA:3270
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... ORPHA:90065
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly, Pectus excavatum, Cupped ear, Pectus carinatum, Microtia... OMIM:609654
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Burn-Mckeown Syndrome
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal cardiac septum morphology, Sho... ORPHA:1200
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Usmani-Riazuddin Syndrome, Autosomal Recessive
Pectus excavatum, Posteriorly rotated ears, Low-set ears, Hypertelorism OMIM:619548
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Vertigo, Microcephaly OMIM:614458
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Catel-Manzke Syndrome
Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Short metacarpal, Overriding aort... OMIM:616145
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... ORPHA:42
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circ... OMIM:232400
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Microcephaly, Pectus excavatum, Hip dislocation, Patellar... ORPHA:1326
16P13.11 Microduplication Syndrome
Pes planus, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Hand polydactyly, Transp... ORPHA:261243
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypospadias, Microcephaly, Micrognathia, Pectus excavatum, Ulnar deviati... ORPHA:2013
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Small s... OMIM:607143
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr... ORPHA:93267
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Facial palsy,... OMIM:615084
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... ORPHA:100093
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Post... ORPHA:83473
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Iliac crest serration, A... OMIM:613320
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ... OMIM:610768
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... OMIM:620244
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Microcephaly... OMIM:251880
Dk1-Cdg
Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C... ORPHA:91131
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... OMIM:620070
Li-Campeau Syndrome
Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Downslanted palpebral fissures,... OMIM:619189
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Anteverted nares, Pectus excavatum, Short... OMIM:617877
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Prominent nose, Underdeveloped nasal alae, Hyper... ORPHA:2471
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Noonan Syndrome 7
Depressed nasal bridge, Thickened helices, Hypertelorism, Pectus excavatum, Macrocephaly, Pectus ... OMIM:613706
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Hypertelorism, Slende... ORPHA:329224
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Hearing impairment, Broad nasal tip, Pectus excavatum, Short thorax, Genu varum, Hip ... OMIM:619451
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... ORPHA:99901
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... OMIM:618278
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Ventricular septal defect, Thickened helices, Posteriorly r... OMIM:610733
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... ORPHA:276556
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres... ORPHA:2256
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... ORPHA:477817
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Pectus excavatum, Depressed nasal bridge ORPHA:1375
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Wide nasal br... OMIM:619698
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Pes planus, Genu recurvatum, Talipes, Campt... ORPHA:915
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... ORPHA:26791
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Generalized hirsutism, Hepat... ORPHA:79083
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Cln3 Disease
Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard... ORPHA:228346
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Microc... ORPHA:1667
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Pes planus, Hip contracture, Scapular winging, Lower limb muscle weakness, Spinal muscular atroph... OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Hemolytic anemia, Aplastic an... ORPHA:398124
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Micrognathia, Microcephaly, Pectus exca... OMIM:618348
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Microcephaly, Pectus excavatum, Protruding ear, Decreased testicular size... ORPHA:85273
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Sandal gap, Microcephaly, Micrognathia, Pectus excavatum, Small hand, ... OMIM:270450
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Tetra... OMIM:618624
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Microcephaly OMIM:212080
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Short stature, Hepa... ORPHA:369
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Abnormal cardiac sept... OMIM:612626
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Low-set ears, Amelia OMIM:601357
16P11.2P12.2 Microduplication Syndrome
Pectus excavatum, Hypospadias, Microcephaly ORPHA:261204
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Sandal gap, Depressed nasal bridge, Microcephaly, Mi... OMIM:617061
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Microcephaly OMIM:610181
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... OMIM:311300
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Brachydactyly, Microcephaly, Abnormal thumb morphology, Hearing abnormality,... ORPHA:2511
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal death OMIM:618839
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Acrocraniofacial Dysostosis
Micrognathia, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Low... ORPHA:949
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia, Microcephaly OMIM:617182
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Pectus excavatum, Mitral valve prolapse, Macrocephaly, ... OMIM:300624
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Sm... ORPHA:36412
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Intellectual Developmental Disorder, Autosomal Recessive 79
Pes planus, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal br... OMIM:620393
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Fetal Trimethadione Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, Transposition of the great arteri... ORPHA:1913
Combined Oxidative Phosphorylation Deficiency 31
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Deeply set ey... OMIM:617228
Tyshchenko Syndrome
Ventricular septal defect, Posteriorly rotated ears, Pectus excavatum, Cryptorchidism, Proptosis,... OMIM:615102
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Hypersplenism, Splenomegaly, Pedal edema, Pulmonary arterial ... ORPHA:77259
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Diabetes mellitus, Short stature, Microcephaly, Insulin resistance,... OMIM:616541
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of deltoid muscle, Short femur, Limited interphalangeal moveme... OMIM:147750
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertrophi... OMIM:618835
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Cryptorchidism, Fibular hypoplas... OMIM:612447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Macrocephaly, Macroorchidism, Macrotia OMIM:300886
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, 2-3 toe cutaneous syndac... OMIM:609625
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Pectus excavatum, Macrocep... OMIM:618272
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Broad hallux, Hypospadias, Tapered finger, Hypertelorism, Cryptorchidism, Short toe... OMIM:618659
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Gm1-Gangliosidosis, Type I
Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Hypertelorism, Splenomegaly, Conge... OMIM:230500
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Ohdo Syndrome, Sbbys Variant
Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Microcephaly, Micrognathia, Crypto... OMIM:603736
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Microcephaly, Dilated cardiomyopathy, Hyperammonemia, Hypogonadism, ... ORPHA:254913
Apparent Mineralocorticoid Excess
Short stature, Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventric... ORPHA:320
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Microcephaly, Broad nasal tip, Hypertelorism, Re... ORPHA:284180
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Microcephaly,... ORPHA:352447
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Ventricular septal defect, Depressed nasal bri... ORPHA:261120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Conductive hearing impairment, Hypertelorism, Central Y-shaped metac... OMIM:277170
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic ane... OMIM:619487
Recombinant 8 Syndrome
Small scrotum, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Micrognathia... ORPHA:96167
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... OMIM:620265
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Macrocephaly, Cherry red spot of the macula... ORPHA:796
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy OMIM:619688
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... ORPHA:1880
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Microcephaly, Anteverted ... OMIM:612530
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, Conductive heari... OMIM:617808
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Syndactyly, Broad hallux, Micrognathia, Hypertelorism, Pectus excavatum, ... OMIM:212780
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Andersen-Tawil Syndrome
Micrognathia, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopi... ORPHA:37553
Double Outlet Right Ventricle
Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta... ORPHA:3426
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... OMIM:619355
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic ste... ORPHA:251076
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Left ventricular hypertrophy, Hypor... ORPHA:93952
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Microcephaly, Hypertelorism, Pectus excavatum, Clinodactyly, Large fl... OMIM:619092
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Wide nose, Arachnodactyly, Long foot, Cardiomegaly, Hypoplasia of the ... ORPHA:2463
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Teebi-Shaltout Syndrome
Syndactyly, Small earlobe, Ventricular septal defect, Rocker bottom foot, Ulnar deviation of the ... OMIM:272950
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Peritonitis, Leukocytosis, Abnormal heart morphol... ORPHA:391673
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... ORPHA:254892
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Abnormal muscle fiber morpho... OMIM:175700
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Narrow c... ORPHA:1621
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Micrognathia, Microcephaly, Underdeveloped nasal alae, Pectus excavatu... ORPHA:77300
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hernia, Hypertelorism, ... OMIM:619699
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Pectus carinatum, Sprengel anomaly, Severe sensorineu... ORPHA:500
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Cerebral arte... ORPHA:137667
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... ORPHA:834
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Microcephaly, Cryptorchidism, Genu valgum, Hypotelorism, ... OMIM:617798
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:310200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Pituitary Gigantism
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... ORPHA:99725
Noonan Syndrome 2
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ears, Micr... OMIM:605275
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Long palpebral fissure... ORPHA:228399
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Micrognathia, Microcephaly, Hypertelorism, Broad thumb, Hypertrophic cardiomyopat... ORPHA:3173
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating aspa... OMIM:620300
Megalencephaly
Macroorchidism, Long penis, Wide nasal bridge, Genu valgum, Deeply set eye, Macrocephaly, Atrial ... ORPHA:2477
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Microcephaly, Elevated circulating acylcarnitine concentration, Cardiomyopa... ORPHA:26792
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Hallux valgus, Toe syndactyly, Brachydactyly... ORPHA:1327
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Decreased pate... ORPHA:98912
Christianson Syndrome
Decreased muscle mass, Microcephaly, Abnormality of the nose, Pectus excavatum, Abnormal thorax m... ORPHA:85278
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Posteriorly rotated ears, Rocker bottom foot, Depressed nas... OMIM:612582
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Decreased fetal movement, Skeletal muscle atrophy, Premature birth, Spinal muscular atrophy, Poly... OMIM:616867
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Microcephaly, Metatarsus va... ORPHA:261236
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Pectus excavatum, Tapered finger, Deeply set eye, Microcephaly ORPHA:85280
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Small for gestational age, Highly arched eyebrow, Microcephaly, Bilateral ptosis, Abn... ORPHA:352490
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Short femur, Micrognathia, Hypertelorism, Abnormal foot morphology, Upper li... ORPHA:94068
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Short stature OMIM:248360
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, ... ORPHA:1716
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... ORPHA:199241
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:269700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Microcephaly, Low anterior hairline, Del... OMIM:616033
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly ORPHA:391646
Distal Deletion 10Q
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hyp... ORPHA:96148
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Micromelia, Mi... ORPHA:2772
Boudin-Mortier Syndrome
Long toe, Mallet finger, Pes planus, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepiphy... OMIM:619543
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Temple-Baraitser Syndrome
Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Hypertelorism, Addu... OMIM:611816
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Increased resting ene... ORPHA:369873
Meckel Syndrome, Type 8
Pericardial effusion, Anhydramnios OMIM:613885
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:609016
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left... OMIM:605376
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Hypertelorism, Pectus excavatum, Bulbous nose, Wide nasal bri... OMIM:618571
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Fair hair, Cyclic neutr... OMIM:302060
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Clubbing of fingers, Left ventricular... ORPHA:335
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rot... OMIM:619343
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Yuan-Harel-Lupski Syndrome
Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Upslanted palpebral fissure, Aortic... OMIM:616652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Decreased fetal movement, Patent ductus arteriosus, Atrial septal ... OMIM:614886
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Tarp Syndrome
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Anteverted nar... OMIM:311900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal ... OMIM:309520
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Hypertelorism, Abnormal thorax morphology, Flexion contrac... ORPHA:171433
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Patent ... OMIM:612561
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropi... ORPHA:465508
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Micrognathia, Conductive... ORPHA:1131
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... OMIM:620167
Acrootoocular Syndrome
Abnormal finger flexion crease, Micrognathia, Hypotelorism, Conductive hearing impairment, Short ... ORPHA:2980
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Depressed nasal bridge, Hypertelorism, Diaphyseal sclerosis, Wide nasal bridge, F... OMIM:122860
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Shallow orbits, Patent foramen ovale, Telangiecta... ORPHA:576
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Microcephaly, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endom... OMIM:602541
Filippi Syndrome
Ventricular septal defect, Microcephaly, 2-4 toe syndactyly, Underdeveloped nasal alae, Cryptorch... OMIM:272440
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Pectus excavatum... OMIM:619694
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... OMIM:265380
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... OMIM:186500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Hypertelorism, Osteolysis involving bones of the upper limbs, Flexion contracture, Sh... ORPHA:88630
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Short thumb, Cry... ORPHA:401935
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Mitral Valve Prolapse 1
Pectus excavatum, Mitral regurgitation, Mitral valve prolapse OMIM:157700
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Diaphragmatic eventration, Microvesicular h... ORPHA:66634
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophi... OMIM:615279
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Pectus excavatum, Hypotelorism, A... ORPHA:1515
Cap Myopathy
Pes planus, Thoracic scoliosis, Reduced systolic function, Facial palsy, Abnormal muscle fiber mo... ORPHA:171881
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98863
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Shprintzen-Goldberg Syndrome
Micrognathia, Protruding ear, Pectus carinatum, Narrow chest, Conductive hearing impairment, Arac... ORPHA:2462
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Micrognathia, Microcephaly, Pectus excavatum, Abnormal... ORPHA:2522
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Protruding ear, Pectus carinatum, Abnormal tricuspid valve morphology, T... ORPHA:192
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Anteverted nares, Short... ORPHA:1517
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Depressed nasal bridge, Bowing of the legs... OMIM:100800
Noonan Syndrome 14
Aortic regurgitation, Pes planus, Scapular winging, Posteriorly rotated ears, Prominent nasal bri... OMIM:619745
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... OMIM:615895
Desbuquois Dysplasia 2
Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx of finger, ... OMIM:615777
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Fifth finger distal phalanx clinoda... ORPHA:3369
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Protruding ear, Pect... OMIM:301039
Renpenning Syndrome
Decreased testicular size, Skeletal muscle atrophy, Hypospadias, Microcephaly, Abnormal thumb mor... ORPHA:3242
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge... OMIM:618821
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... ORPHA:308552
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Hypertelorism, Long fing... ORPHA:96092
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Pectus excavatum, Deviation of finger, Deeply set eye, Bilateral talipes equinova... ORPHA:1154
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Pectus excavatum, Increased variability in muscle fiber di... OMIM:614399
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Small for gestational age... OMIM:301056
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome... ORPHA:324410
Li-Ghorbani-Weisz-Hubshman Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral... OMIM:618974
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ... OMIM:617022
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Opsismodysplasia
Hepatomegaly, Depressed nasal bridge, Tapered finger, Pectus excavatum, Splenomegaly, Squared ili... ORPHA:2746
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Pes planus, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Mi... OMIM:225320
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Mic... ORPHA:1597
Noonan Syndrome 3
Hypoplastic nasal bridge, Ventricular septal defect, Thickened helices, Posteriorly rotated ears,... OMIM:609942
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Arachnodactyly, Pectus excavatum, Pectus carinatum, Mitral valve prolapse OMIM:616166
Lymphoproliferative Syndrome 1
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:613011
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte... OMIM:606003
Leopard Syndrome 1
Bundle branch block, Depressed nasal ridge, Protruding ear, Pectus carinatum, Aplasia of the ovar... OMIM:151100
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Arterial Tortuosity Syndrome
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hypertelorism, ... ORPHA:3342
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Pe... ORPHA:52055
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Muscula... ORPHA:88618
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, S... OMIM:620306
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Abnormal pinna morphology, Micrognathia, Microcephaly, Pectus excavatum, Bulbous n... OMIM:614104
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... OMIM:270100
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Tonne-Kalscheuer Syndrome
Decreased testicular size, Pes planus, Hypospadias, Prominent nasal bridge, Congenital diaphragma... OMIM:300978
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Allan-Herndon-Dudley Syndrome
Hallux valgus, Pes planus, Microcephaly, Pectus excavatum, Flexion contracture, Underfolded super... OMIM:300523
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Roifman Syndrome
Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogon... ORPHA:353298
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral... ORPHA:1190
Vici Syndrome
Lymphopenia, Failure to thrive, Hypopigmentation of hair, Elevated circulating creatine kinase co... OMIM:242840
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Aspleni... ORPHA:99776
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Dilated cardiomy... OMIM:607155
Tetrasomy 5P
Posteriorly rotated ears, Overlapping toe, Short hallux, Micrognathia, Anteverted nares, Long fin... ORPHA:3309
Hyperparathyroidism, Transient Neonatal
Short femur, Anteverted nares, Metaphyseal spurs, Depressed nasal bridge, Wide nasal bridge, Undu... OMIM:618188
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Wide nose, Thoracic scoliosis, External genita... ORPHA:79330
Distal Duplication 15Q
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge,... ORPHA:1707
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Microcephaly ORPHA:357225
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Congenital fibrosis of extraocular muscles OMIM:609384
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... ORPHA:2872
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger... ORPHA:1703
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Sha... OMIM:182212
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Intellectual Disability, Wolff Type
Microretrognathia, Hypospadias, Camptodactyly of finger, Hypertelorism, Hypoplastic superior heli... ORPHA:3080
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina... ORPHA:90362
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Deeply set eye, Enlar... ORPHA:251071
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Posteriorly rotated ears, Sandal gap, Congenital diaphragmatic hernia, M... OMIM:300887
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Pes planus, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae... ORPHA:521308
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Microce... OMIM:618142
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog... OMIM:607598
Trigonocephaly With Short Stature And Developmental Delay
Posteriorly rotated ears, Ventricular septal defect, Wide nasal bridge, Hypotelorism, Low-set ear... OMIM:314320
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Camptodactyly of finger, Splenomegaly, Congestive hea... ORPHA:354
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Congenital hip dislocation, Anteverted nares, Hypertelorism, Hearing abn... ORPHA:2412
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... OMIM:212065
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Ring Chromosome 10 Syndrome
Sandal gap, Tapered finger, Micrognathia, Hypertelorism, Pectus excavatum, Wide nasal bridge, Abn... ORPHA:1438
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Cardiac... ORPHA:20
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis ORPHA:846
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Relative macrocephaly, Hepatomegaly, Hallux valgus, Thoracic kyphoscoliosis, Posteriorly rotated ... OMIM:613385
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Micrognathia, Protruding ear, Deeply set eye, Atrial septal defect, ... OMIM:613458
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Trisomy X
Clinodactyly of the 5th finger, Hip dysplasia, Pectus excavatum, Hypertelorism ORPHA:3375
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Micr... OMIM:609308
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Microcephaly, Tapered finger, Pectus excavatum, Subvalvular ... ORPHA:65286
Geleophysic Dysplasia 1
Hepatomegaly, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus e... OMIM:231050
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Kniest Dysplasia
Hip contracture, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Pectus excavatum,... OMIM:156550
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P... OMIM:210710
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect, Myopathy, Increased variability in muscle fi... OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Microcephaly, Growth delay, Bradycardia, Pulmonary arte... OMIM:619272
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Hypertelorism, Cryptorchidism, Abnormal thorax morphology, Abn... ORPHA:638
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Qazi-Markouizos Syndrome
Torticollis, Prominent nasal bridge, Hypertelorism, Tapered finger, Cryptorchidism, Pectus excava... ORPHA:3010
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Xq12-Q13.3 Duplication Syndrome
Depressed nasal bridge, Microcephaly, Hypertelorism, Cryptorchidism, Pectus excavatum, Recurrent ... ORPHA:314389
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Pectus carinatum, Abnormal tricuspid valve morphology, Clinoda... ORPHA:1507
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... OMIM:618150
Cranioectodermal Dysplasia 2
Micrognathia, Narrow chest, Atrial septal defect, Patent foramen ovale, Simple ear, Hepatomegaly,... OMIM:613610
Childhood-Onset Nemaline Myopathy
Scapular winging, Micrognathia, Hypertelorism, Flexion contracture, Increased muscle lipid conten... ORPHA:171439
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment... OMIM:266500
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even... OMIM:608978
Oculoauriculofrontonasal Syndrome
Wide nose, Ventricular septal defect, Microcephaly, Micrognathia, Underdeveloped nasal alae, Bifi... ORPHA:398156
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Finger clinodactyly, Deeply set eye, ... ORPHA:508488
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Transposition ... OMIM:619910
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... OMIM:611126
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nasal tip, Hypertelorism, Postaxial hand polydactyly, Hypoplastic frontal ... OMIM:136760
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Thoracolumbar kyphosis, Flexion contracture, Pectus carinatum, Narrow greater sci... OMIM:253220
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios ORPHA:1263
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
D-Glyceric Aciduria
Hypoglycemia, Microcephaly, Nonketotic hyperglycinemia, Growth delay, Deeply set eye, Bradycardia... OMIM:220120
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pes planus, Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Anosmia, Hypoteloris... OMIM:244200
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow OMIM:616898
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Achalasia, Short statur... ORPHA:324
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont... ORPHA:263297
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Microcephaly, Hypertelorism, Cryptorchidism, Bulbous nose, Macrocephaly, Atrial ... ORPHA:466926
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Microcephaly, Bradycardia, Joint contracture, Progressive microcephaly, Limb hyp... OMIM:614498
Aminoacylase 1 Deficiency
Bradycardia, Hypertelorism OMIM:609924
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Ventricular septal defect, Sandal gap, Congenital diaphragmatic herni... OMIM:617602
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve... OMIM:305400
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardi... OMIM:619064
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Microcephaly, Cardiome... ORPHA:858
Mmep Syndrome
Ventricular septal defect, Microcephaly ORPHA:3434
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Deeply set eye, Generalized amyotroph... OMIM:620351
Joubert Syndrome 32
Depressed nasal bridge, Hypertelorism, Postaxial hand polydactyly, Postaxial foot polydactyly, Ma... OMIM:617757
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Ring Chromosome 6 Syndrome
Hypertelorism, Microcephaly, Wide nasal bridge, Macrotia, Short distal phalanx of finger ORPHA:1448
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Anomalous ... ORPHA:244
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,... ORPHA:550
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Intrauterine growth ... OMIM:619573
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Cryptorch... ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Flexion contracture, Protruding ear, Talipes calcaneovarus, Deeply set eye, Micrope... OMIM:300534
Marfanoid-Progeroid-Lipodystrophy Syndrome
Pes planus, Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent ... OMIM:616914
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal g... ORPHA:453533
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Frank-Ter Haar Syndrome
Micrognathia, Secundum atrial septal defect, Protruding ear, Short palm, Atrial septal defect, Sh... OMIM:249420
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Abnormal... ORPHA:2970
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... ORPHA:206549
Hypertelorism, Microtia, Facial Clefting Syndrome
Microcephaly, Micrognathia, Broad nasal tip, Hypertelorism, 2-3 toe syndactyly, Abnormal heart mo... OMIM:239800
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di... OMIM:616730
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Female pseudohermaphroditis... ORPHA:1519
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Hamamy Syndrome
Long toe, Syndactyly, Anteverted nares, Down-sloping shoulders, Prolonged QRS complex, Micrognath... OMIM:611174
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Chitayat Syndrome
Hallux valgus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Pectus excavatum, Short c... OMIM:617180
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:399086
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplen... ORPHA:464329
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... OMIM:616299
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, Depressed nas... OMIM:620073
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Anteverted nares, Depressed nasal... OMIM:252500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Decreased fetal movement, Premature birth, Spinal muscular atrophy, Secundum atrial septal defect... OMIM:616866
Fabry Disease
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Pectus excavatum, Absent phalangeal crease, Protruding ear... OMIM:108145
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Pectu... ORPHA:163654
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Microcephaly ORPHA:2898
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:252920
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Bifid scrotum, Anteverted nares, Depressed nasal bridge, Micro... ORPHA:363659
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Short ... OMIM:614008
Monosomy 18Q
Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, Choanal stenosis, Bipari... ORPHA:1600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... OMIM:611717
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia OMIM:620210
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Pectus excavatum, Bicuspid aortic valve, Hypertelorism OMIM:619825
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Bil... OMIM:300472
Maternal Phenylketonuria
Epicanthus, Ventricular septal defect, Microcephaly, Bilateral ptosis, Abnormal heart morphology,... ORPHA:2209
Congenital Disorder Of Glycosylation, Type Iia
Pes planus, Posteriorly rotated ears, Ventricular septal defect, Proximal placement of thumb, Mic... OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Microcephaly, Patent ductus arteriosus, Coarctation of aorta, Long eyelashes, Atrial ... OMIM:615502
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Microcephaly, Cardiomyopathy, Decreased liver function, Failure to thrive, Thromboc... ORPHA:67048
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Pes planus, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, H... ORPHA:555877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... OMIM:615156
Mgat2-Cdg
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Ventricular septal defect, Hypertelo... ORPHA:79329
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, H... OMIM:246200
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... OMIM:617137
Hogue-Janssen Syndrome 2
Broad hallux, Facial hypotonia, Postaxial polydactyly, Microcephaly, Anteverted nares, Hypertelor... OMIM:616362
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... OMIM:256810
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, Proptosis, Lipodystrophy,... OMIM:248370
Jacobsen Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, ... OMIM:147791
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Down-sloping shoulders, Microcephaly, Micrognathia, Deviation of the... ORPHA:391408
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Congenital foot contractures, Bradycardia, Intrauterine growth retardation, Neonata... ORPHA:565624
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Microcephal... ORPHA:159
Alg9-Cdg
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Tricuspid regurgitation, Vent... ORPHA:79328
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Coxa valga, Prominent nose, ... OMIM:617425
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... OMIM:313420
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Micrognathia, Symphalangism affectin... ORPHA:2990
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Crypto... OMIM:615524
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Microcepha... ORPHA:79237
Osteogenesis Imperfecta, Type X
Relative macrocephaly, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia,... OMIM:613848
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Microcephaly, Hypertelorism, Precocious puberty, Bulbous nose, Wide nasal bridg... OMIM:300958
Distal Monosomy 7Q36
Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Pectus excavatum, ... ORPHA:1636
Bohring-Opitz Syndrome
Short stature, Facial hypotonia, Cardiomegaly, Microcephaly, Hypertelorism, Synophrys, Bilateral ... ORPHA:97297
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... ORPHA:609
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Rocker bottom foot, Hypertelorism, Wide nasal bridge, Low-set ears,... ORPHA:89844
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Alg8-Cdg
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodacty... ORPHA:79325
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... OMIM:256040
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Leprechaunism
Skeletal muscle atrophy, Increased circulating renin level, Recurrent infantile hypoglycemia, Fas... ORPHA:508
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... ORPHA:97287
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:268310
Renal Tubular Dysgenesis
Tetralogy of Fallot, Premature birth, Polyhydramnios, Oligohydramnios ORPHA:3033
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Anteverted nares, Postaxial polydactyly, Microcephaly, Micrognathia, Tapered fin... OMIM:613792
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric... OMIM:618164
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Failure to th... ORPHA:2394
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Donnai-Barrow Syndrome
Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... ORPHA:2143
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Micrognathia, Flexion contracture, Deeply set eye, Generalized amyotrophy, He... OMIM:620369
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Secun... OMIM:600987
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... OMIM:190685
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Wide nose, Microcephaly, Pectus excavatum, Splenomegaly, Metaphyseal widening, Flex... OMIM:617303
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Pectus excavatum, Skeletal muscle atrophy, Hypertelorism, Microcephaly OMIM:618603
Osteoglophonic Dysplasia
Short metatarsal, Short palm, Shallow orbits, Short phalanx of finger, Pseudoarthrosis, Broad met... OMIM:166250
Pseudoaminopterin Syndrome
Micrognathia, Patent foramen ovale, Synostosis of carpal bones, Low-set, posteriorly rotated ears... ORPHA:221120
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Prominent nasal bridge, Pectus excavatum, Pectus carinatum, Narrow chest, Macrocephaly, Long foot OMIM:300676
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Braddock Syndrome
Congenital muscular torticollis, Posteriorly rotated ears, Missing ribs, Micrognathia, Preaxial h... ORPHA:52047
Suleiman-El-Hattab Syndrome
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Synophrys, Downslante... OMIM:618950
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Mixed hearing impairment, Abnormal nasopharynx morphology, Facial palsy, H... OMIM:218400
Koolen-De Vries Syndrome
Bicuspid aortic valve, Arachnodactyly, Prominent nasal bridge, Microcephaly, Underdeveloped nasal... ORPHA:96169
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pectus excavatum, Hypertelorism, Microcephaly OMIM:245349
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Failure to thrive, Pancr... ORPHA:79312
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Shukla-Vernon Syndrome
Hypertelorism, Pectus excavatum, Long fingers, Tapered finger, Wide nasal base OMIM:301029
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Pectus excavatum, Muscular d... OMIM:617066
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Waardenburg Syndrome Type 3
Telecanthus, Camptodactyly of finger, Blepharophimosis, Microcephaly, Atrial septal defect, Downs... ORPHA:896
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Panniculitis, Smal... OMIM:608068
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Pectus excavatum, ... OMIM:104350
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Pectus carinatum, Clinodactyly of the 5th ... OMIM:115150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Flexion... ORPHA:89842
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... ORPHA:90673
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hernia, Microceph... OMIM:263210
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Ab... OMIM:271665
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Hypospadias, Microcephaly, Hypertelorism, Cryptorchidism, Low-set ears, Cl... OMIM:300997
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Narrow nasal ridge, ... OMIM:612940
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Micrognathia, Flexion contracture, Tibial bowing, Deeply set eye, Na... ORPHA:96334
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc... ORPHA:365
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... ORPHA:329249
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Abnormality of the ear, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Hypertelorism, Wide nasal bridge, Cardiomyopathy, Proptosis, Secondary microcep... OMIM:618437
Tenorio Syndrome
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Macrocephaly, Hypoinsulinemia, Thick eye... OMIM:616260
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Hyperte... ORPHA:380
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic he... ORPHA:373
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Loeys-Dietz Syndrome 5
Pes planus, Decreased muscle mass, Scapular winging, Ventricular septal defect, Arachnodactyly, P... OMIM:615582
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Ankle clonus,... OMIM:615398
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Pectus excavatum, Thoracic hypoplasia, Bowing of the legs ORPHA:156728
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Macrocephaly, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Thickened helices, Abnormal m... ORPHA:1340
Lambotte Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Atresia of the external auditory canal, P... OMIM:245552
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Allergic rhinitis, Hypertelorism, Pectus excavatum, 2-3 toe syndac... OMIM:618162
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Posteriorly rotated ears, Bicuspid aortic valve, Broad hallux, Micrognathi... OMIM:618529
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Highly arched eyebrow, Macrocephaly, Atrial septal defec... ORPHA:500533
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Wide nose, Ventricular septal defect, Hearing impairment, Hypertelorism, Short nos... OMIM:614261
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Larsen Syndrome
Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conductive hearing impairme... OMIM:150250
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarctation of aorta, Total a... ORPHA:261183
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Microcephaly... OMIM:246900
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Jaundice, Patent ductus arte... ORPHA:290
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Hypoplastic labia ... ORPHA:64755
Lateral Meningocele Syndrome
Posteriorly rotated ears, Ventricular septal defect, Abnormality of the middle ear ossicles, Micr... ORPHA:2789
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Conductive hearing impairment, Short metatarsal, Abnormal earlobe morpholo... ORPHA:217017
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Micromelia, Microcephaly, Abnormal nasal morpholog... ORPHA:1798
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, De... ORPHA:2849
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Acitretin/Etretinate Embryopathy
Microcephaly, Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, ... ORPHA:40366
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Tarp Syndrome
Micrognathia, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ears, Finger synd... ORPHA:2886
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom... ORPHA:93476
Chromosome 2P16.1-P15 Deletion Syndrome
Posteriorly rotated ears, Arachnodactyly, Depressed nasal bridge, Microcephaly, Metatarsus adduct... OMIM:612513
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Hepatomegaly... OMIM:602782
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Thoracic scoliosis, Shield chest, Low-set ears OMIM:616994
Lymphatic Malformation 1
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... OMIM:153100
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti,... ORPHA:488632
Koolen-De Vries Syndrome
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Prominent nasal bridg... OMIM:610443
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular li... OMIM:220111
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Conductive hearing impairment, Clinodactyly of the 5th finger,... OMIM:300373
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Microcephaly OMIM:619814
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Dilated cardiomyopathy, Premature gra... OMIM:613989
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morp... ORPHA:1439
Melnick-Needles Syndrome
Micrognathia, Tibial bowing, Narrow chest, Hypertelorism, Cone-shaped epiphyses of the phalanges ... OMIM:309350
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Eosinophi... OMIM:616651
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly OMIM:610015
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... ORPHA:51608
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Long... OMIM:603387
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, Pectus excavatum, Cryptorchidism, ... OMIM:219150
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Myopathy, Myofibrillar, 8
Pes planus, Scapular winging, Micrognathia, Centrally nucleated skeletal muscle fibers, Pectus ex... OMIM:617258
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Coffin-Siris Syndrome 5
Microcephaly, Long eyelashes, Atrial septal defect, Thick eyebrow, Ptosis OMIM:616938
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... OMIM:615668
19P13.13 Microdeletion Syndrome
Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Hypertelorism, Pectus excavatum... ORPHA:357001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Elevated circulating creatine kinase concentration, Facial palsy, Microcephaly, Flexion contractu... OMIM:613155
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Microcephaly, Bifid nasal tip, Pectus excavatum, Mitral valve prolapse, Macrocephaly... OMIM:618874
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... OMIM:607616
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Short humerus, Short femur, Skeletal muscle atrophy, Hypospadias, Microcephaly, Sen... ORPHA:17
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Brachydactyly, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal brid... OMIM:614078
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Arachnodactyly, Congenital diaphragmatic hernia, M... OMIM:208050
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Pectus excavatum, Crypto... ORPHA:486815
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Noonan Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonar... ORPHA:648
Three M Syndrome 1
Pes planus, Scapular winging, Anteverted nares, Depressed nasal bridge, Hypospadias, Pectus excav... OMIM:273750
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Sprengel anomaly, Narrow chest, Atrial sep... OMIM:213980
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Congenital diaphragmatic herni... OMIM:614294
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis OMIM:618155
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Micrognathia, Bowing of the legs, Flexion contracture, Narrow chest, Cryptorchidism, ... ORPHA:1865
3C Syndrome
Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Atr... ORPHA:7
Wildervanck Syndrome
Meningocele ORPHA:3456
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Failure to thrive, Pulmonic stenosis, Microcephaly OMIM:619239
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion OMIM:617822
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, Microcephaly, Underdeveloped nasal alae, Bulbous nose, Flexion contracture, Cardiom... OMIM:616549
Anauxetic Dysplasia 3
Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Hip subluxation, Pectus e... OMIM:618853
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Uppe... OMIM:169400
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Pectus carinatum, Abnormal meta... ORPHA:166100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Pulmonary embolism, Microcephaly, Megalo... ORPHA:79282
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Microcephaly, Secundum atrial s... OMIM:617397
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax ORPHA:93302
Mohr Syndrome
Syndactyly, Depressed nasal bridge, Micrognathia, Broad nasal tip, Preaxial hand polydactyly, Pos... OMIM:252100
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed nasal bridge, Hypertelo... OMIM:601321
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Monosomy 18P
Microcephaly, Micrognathia, Pectus excavatum, Wide nasal bridge, Protruding ear, Abnormal antihel... ORPHA:1598
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Ventricular septal defect, Microcephaly OMIM:618506
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Microcephaly, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... OMIM:616817
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Diastasis recti, Spleno... OMIM:608149
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Prominent nose, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Atrial septal defect, P... ORPHA:466791
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Pes planus, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal ... ORPHA:476126
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... ORPHA:97214
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Downslanted palpebral fissur... OMIM:620184
Al Kaissi Syndrome
Pes planus, Torticollis, Abnormal pinna morphology, Posteriorly rotated ears, Depressed nasal bri... OMIM:617694
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Hypertelorism, Postaxia... ORPHA:2075
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Hepatomegaly, Overlapping toe, Anteverted nares, Hypertelorism, Flexion cont... OMIM:619383
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice ORPHA:766
Leopard Syndrome 2
Depressed nasal bridge, Hypertelorism, Abnormal sternum morphology, Low-set ears, Hypertrophic ca... OMIM:611554
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Cupped ear, Wide nasal bridge, Atrial s... ORPHA:93946
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Highly arched eyebrow, Microcephaly, Flexion contracture, Long eyelash... OMIM:617452
Combined Oxidative Phosphorylation Deficiency 39
Microcephaly, Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mel... OMIM:618397
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Epicanthus, Ventricular septal defect, Progressive macrocephaly, Leukemia, Downslanted palpebral ... OMIM:602501
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hypertelorism, Pectus excavatum, Hand polyda... OMIM:258860
Stickler Syndrome, Type I
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Sensori... OMIM:108300
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Fetal pyelectasis, Limb hypertonia OMIM:301058
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Overweight, Patent ductus arteriosus, Persistence of hemoglobin F, Mac... OMIM:619769
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Potocki-Lupski Syndrome
Small for gestational age, Microcephaly, Downslanted palpebral fissures, Atrial septal defect, Fa... OMIM:610883
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556037
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope, Palmoplantar keratoderma OMIM:615821
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... OMIM:615160
Pyruvate Dehydrogenase Deficiency
Hypertelorism, Pectus excavatum, Microcephaly, Osteolytic defects of the middle phalanx of the 4t... ORPHA:765
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... ORPHA:156
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556030
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... ORPHA:333
Noonan Syndrome 5
Epicanthus, Large for gestational age, Sparse eyebrow, Pulmonic stenosis, Macrocephaly, Atrial se... OMIM:611553
Humero-Radial Synostosis
Meningocele ORPHA:3265
Burn-Mckeown Syndrome
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Micrognathia, Underdeveloped ... OMIM:608572
Beck-Fahrner Syndrome
Pes planus, Ventricular septal defect, Facial hypotonia, Microcephaly, Cardiomegaly, Protruding e... OMIM:618798
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Anteverted nares, Proximal placement of thumb, Microcephal... OMIM:217980
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Pectus excavatum, Flexion cont... OMIM:611588
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears... OMIM:130720
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Prog... OMIM:610333
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hepatitis, Hema... OMIM:615846
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Broad nasal tip, Hypertelorism, De... ORPHA:166016
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Wide nasal bridge, Deeply set eye, Clinodactyly of the 5th finger, Pulmoni... OMIM:619149
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Protruding ear, Congenital contracture, Clinodactyly of the 5th finger, Atri... ORPHA:261279
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... ORPHA:1133
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... ORPHA:90051
Cardioacrofacial Dysplasia 2
Recurrent patellar dislocation, Hypertelorism, Postaxial hand polydactyly, Clubbing, Genu valgum,... OMIM:619143
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Post... ORPHA:2215
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypotelorism, Deeply set eye, G... OMIM:264090
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Posteriorly rotated ears, Anteverted nares, Microcephaly, Depressed nasal ... OMIM:613563
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Dextrocardia, Micrognathia, Cryptorchidism, Wide nasal bridge, Depressed... ORPHA:2863
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Hypo... OMIM:606851
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... OMIM:602535
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short thumb, Prominent nose, ... OMIM:617516
22Q11.2 Duplication Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Hypoplastic left heart, Transposition of the... ORPHA:1727
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... OMIM:600001
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myositis, Myocardial infar... ORPHA:3452
C Syndrome
Micromelia, Micrognathia, Dislocated radial head, Hepatomegaly, Short metacarpal, Clitoral hypert... OMIM:211750
Tatton-Brown-Rahman Syndrome
Epicanthus, Ventricular septal defect, Blepharophimosis, Narrow palpebral fissure, Horizontal eye... OMIM:615879
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Microcephaly, Micrognat... ORPHA:193
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal ridge, Deeply set eye, Clinodactyly of the 5th finger, Condu... ORPHA:1606
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Thoracic kyphosis, Short palm, Clinodact... ORPHA:508498
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Toe syndactyly, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hy... OMIM:146390
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Intellectual Disability, Buenos-Aires Type
Microcephaly, Hypertelorism, Wide nasal bridge, Pectus carinatum, Abnormal pelvic girdle bone mor... ORPHA:3079
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Macroglossia, ... ORPHA:79255
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Microcephaly, Insulin-resistant diabetes mellitus, Ca... ORPHA:401768
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, Abnormal aortic morphology, Blepharophimosis, Truncus ar... ORPHA:2516
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Failure to thrive, Bicuspid aortic valve OMIM:617744
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic... OMIM:263520
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Microcephaly, Splenomeg... ORPHA:2585
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Abnormal foot morph... ORPHA:369891
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Deeply set eye, Thickened helices, Conductive heari... OMIM:607872
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... ORPHA:1772
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Pes planus, Facial hypotonia, Hypospadias, Decr... ORPHA:261311
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Sandal gap, Hypertelorism, Pectus excavatum, Cryptor... ORPHA:1812
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, Downslan... OMIM:619542
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o... ORPHA:251056
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Microcephaly OMIM:601355
De Barsy Syndrome
Decreased muscle mass, Congenital hip dislocation, Ventricular septal defect, Hypertelorism, Pect... ORPHA:2962
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepati... OMIM:300868
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Abnormal aortic morphol... ORPHA:1166
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Arteriovenous malformation, Ascites ORPHA:584
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Short digit, Mult... OMIM:618143
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:617253
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Cardiofaciocutaneous Syndrome 4
Pectus excavatum, Ventricular septal hypertrophy, Palmoplantar hyperkeratosis, Abnormal aortic va... OMIM:615280
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Patent ductus arteriosus, Abnor... ORPHA:163956
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Depressed nasal bridge, Hypertelorism, Wide nasal bridg... ORPHA:137834
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, Patent foramen ovale, Simple ear, Ant... OMIM:619325
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Death in infancy, Neutrophilia, Elevated hepatic transaminas... OMIM:619644
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... OMIM:253800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Muscular ventricular septal defect, L... OMIM:619227
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... OMIM:300855
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Bilateral sensorineural hearin... OMIM:618321
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Trichohepatoneurodevelopmental Syndrome
Narrow chest, Clinodactyly of the 5th finger, Bilateral coxa valga, Simple ear, Hepatomegaly, Hyp... OMIM:618268
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Typical Nemaline Myopathy
Facial palsy, Micrognathia, Pectus excavatum, Limb-girdle muscle weakness, Flexion contracture, H... ORPHA:171436
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Hypertelorism, Pectus... ORPHA:3219
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Elevated circulating ... OMIM:257200
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Allan-Herndon-Dudley Syndrome
Macrocephaly at birth, Pes planus, Skeletal muscle atrophy, Microcephaly, Pectus excavatum, Crypt... ORPHA:59
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Carpenter Syndrome 2
Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Protruding ear, Knee flexion contractu... OMIM:614976
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pes planus, Torticollis, Broad hallux, Anteverted nares, Depressed nasal bridge, Tapered finger, ... OMIM:620224
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na... OMIM:619995
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100082
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Structural foot deformity, Protruding ear, Deeply set eye, Clinodact... ORPHA:464306
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Wiedemann-Steiner Syndrome
Brow ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Microcephaly, Blepharophimosis, Co... OMIM:605130
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Hypertelorism, Cry... OMIM:619135
Distal Deletion 12Q
Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5th... ORPHA:96149
Ruijs-Aalfs Syndrome
Pes planus, Skeletal muscle atrophy, Thoracic kyphoscoliosis, Down-sloping shoulders, Prominent n... OMIM:616200
Hyperphosphatasia-Intellectual Disability Syndrome
Prominent nasal bridge, Micrognathia, Hypertelorism, Pectus excavatum, Bulbous nose, Cupped ear, ... ORPHA:247262
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Anteverted nares, Microcephaly, Hypertelorism, Sensorineural hearing i... OMIM:220500
Fucosidosis
Barrel-shaped chest, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Wide nose, Depressed nas... OMIM:230000
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Arboleda-Tham Syndrome
Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, Deeply set eye, Long th... OMIM:616268
Osteogenesis Imperfecta, Type Xix
Rhizomelia, Bowing of the legs, Pectus excavatum, Pectus carinatum, Bowing of the arm, Hearing im... OMIM:301014
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Synophrys, Neutropenia, Atrial septal defect, Downslante... OMIM:618067
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microcep... ORPHA:96097
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal d... OMIM:614576
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, F... ORPHA:349
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial s... ORPHA:2255
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Bulbous n... OMIM:613604
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Pectus carinatum, Clitoral ... ORPHA:3107
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skel... OMIM:607459
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Long eyel... ORPHA:505237
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Relative macrocephaly, Wide nose, Tricuspid regurgitation, Ventricular septal defect, Thickened h... OMIM:617506
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Hurler Syndrome
Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hepatomegaly, Hypoplasia o... OMIM:607014
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares, Prominent nasal b... OMIM:227330
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... ORPHA:228305
Richieri-Costa/Guion-Almeida Syndrome
Microcephaly, Pectus excavatum, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Abnormal d... OMIM:268850
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Melnick-Needles Syndrome
Bowing of the long bones, Micrognathia, Coxa valga, Hypertelorism, Short thorax, Hip dislocation,... ORPHA:2484
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... ORPHA:1318
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Orofaciodigital Syndrome Iii
Hypertelorism, Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydac... OMIM:258850
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Upslanted ... OMIM:617159
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Narrow chest, 2-5 toe syndactyly, Paten... OMIM:617746
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Macrocephaly, Failure to thrive, Thrombocytopenia OMIM:615085
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasal bridge, Low-set... OMIM:220220
Omodysplasia 2
Micrognathia, Clitoral hypoplasia, Clinodactyly of the 5th finger, Micropenis, Dislocated radial ... OMIM:164745
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Syndactyly, Anteverted nares, Microcephaly, Hypertelorism, 2-3 toe syndactyly, ... OMIM:614701
49,Xxxyy Syndrome
Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, M... ORPHA:261534
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive OMIM:230350
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Pectus excavatum, Bicuspid aortic valve OMIM:617168
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down... OMIM:114300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Brachydactyly, Small scrotum, Posteriorly rotated ears, Roc... OMIM:601353
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Abnormal cardi... OMIM:615009
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Pes planus, Anteverted nares, Prominent nasal bridge, Tapered finger, Microceph... OMIM:616977
2P15P16.1 Microdeletion Syndrome
Protruding ear, Enlarged thorax, Facial palsy, Tapered finger, Wide nasal bridge, Low-set ears, A... ORPHA:261349
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Congesti... ORPHA:2331
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Malan Overgrowth Syndrome
Depressed nasal bridge, Pectus excavatum, Slender long bone, Deeply set eye, Macrocephaly ORPHA:420179
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Atri... OMIM:312870
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of... ORPHA:90650
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... OMIM:613404
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Sensorineur... OMIM:243310
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Ventricular septal defect,... ORPHA:2008
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Hypertelorism, Bulbous nose... ORPHA:2180
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Acrodysostosis
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... ORPHA:950
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Pectus excavatum, Short nose, Depressed nasal bridge, Macrocephaly ORPHA:2835
Snijders Blok-Campeau Syndrome
Prominent nose, Hypertelorism, Abnormal foot morphology, Wide nasal bridge, Macrocephaly, Perimem... OMIM:618205
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Anteverted nares, Pectus excavatum, Asymmetry of the ... ORPHA:1969
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fallo... ORPHA:2556
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... ORPHA:3260
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature, Microcephaly, Hypertelorism, Cryptorchidi... ORPHA:85323
Alazami Syndrome
Sparse eyebrow, Abnormality of the orbital region, Mild microcephaly, Narrow palpebral fissure, A... ORPHA:319671
Genitopatellar Syndrome
Small scrotum, Hypoplastic ischia, Micrognathia, Prominent nose, Knee flexion contracture, Short ... ORPHA:85201
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Protruding ear, Hypotelorism, Narrow chest, Hepatomegaly, Rhizomelia, Ante... OMIM:218330
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple... OMIM:256540
Spinocerebellar Ataxia, Autosomal Recessive 31
Clinodactyly of the 5th finger, Pectus excavatum, Pes cavus, Bilateral sensorineural hearing impa... OMIM:619422
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Hypertelor... OMIM:304110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Ankle flexion contractur... ORPHA:464311
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair... OMIM:612289
Penoscrotal Transposition
Hypospadias, Abnormal external genitalia, Micrognathia, Penoscrotal transposition, Patellar aplas... ORPHA:2842
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Epispadias, Pectus carinatum, Abnormal penis morphology, A... ORPHA:2461
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Micrognathia, Deeply set eye, Atrial septal defect, Chronic otit... ORPHA:96121
Ayme-Gripp Syndrome
Pericarditis, Brachydactyly, Posteriorly rotated ears, Depressed nasal bridge, Tapered finger, Hy... OMIM:601088
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyop... ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Lower limb muscle weakne... ORPHA:268
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Anauxetic Dysplasia 1
Barrel-shaped chest, Hip contracture, Rhizomelia, Hypertelorism, Hypoplastic ilia, Short toe, Fla... OMIM:607095
Hsd10 Disease, Infantile Type
Hypoglycemia, Microcephaly, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Pes planus, Osteoarthritis of the small joints of the hand, Uterine prolaps... ORPHA:284984
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Sweet Syndrome
Acute myeloid leukemia, Myositis, Neutrophilia, Elevated circulating C-reactive protein concentra... ORPHA:3243
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Downslanted palpebral fissures, Obesity ORPHA:1035
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100075
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... ORPHA:199299
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal brid... ORPHA:3255
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ... OMIM:618494
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Cranioectodermal Dysplasia 4
Anteverted nares, Pectus excavatum, Protruding ear, Hip dysplasia, Cutaneous finger syndactyly, N... OMIM:614378
Noonan Syndrome 13
Pes planus, Posteriorly rotated ears, Overlapping toe, Anteverted nares, Microcephaly, Micrognath... OMIM:619087
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Hypotel... ORPHA:536545
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Microretrognathia, Finger syndactyly, Hypospadias, Microcephal... ORPHA:1786
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Lateral cla... OMIM:615503
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Hypertelorism, Splenomegaly, Macroglossia, Type II diabetes mellit... ORPHA:61
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Clinodactyly, Flexion contracture, Protruding ear, Hypotel... OMIM:309590
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, Cardiomyopathy, Hyporeflexia of lower limbs, EMG: myo... OMIM:609452
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Raine Syndrome
Mixed hearing impairment, Bowing of the long bones, Abnormal pinna morphology, Posteriorly rotate... OMIM:259775
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Ehlers-Danlos Syndrome, Classic Type, 1
Pes planus, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Pectus excav... OMIM:130000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Arachnodactyly... ORPHA:536467
Noonan Syndrome 9
Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslanted p... OMIM:616559
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal vestibular function, Ragged-red muscle fibers, Dilated cardiomyopathy, Bilateral sensori... ORPHA:70595
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Barrel-shaped chest, Hepatomegaly, Depressed nasal ... OMIM:226980
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Depressed nasal bridge, Bilateral cryptorchidism, Pectus excavatum, Low-set ears, Macrotia ORPHA:314575
Teebi Hypertelorism Syndrome 1
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hypertelorism,... OMIM:145420
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal size of the palpebral fissures, Microc... ORPHA:500159
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... ORPHA:3085
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hepatic n... ORPHA:90062
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Ventricular septal defect, Thin eyebrow, Microcephaly OMIM:617635
Thanatophoric Dysplasia Type 2
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios ORPHA:93274
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Chromosome 9P Deletion Syndrome
Micrognathia, Atrial septal defect, Micropenis, Long toe, Anteverted nares, Depressed nasal bridg... OMIM:158170
Braddock-Carey Syndrome 1
Aortic valve prolapse, Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Mic... OMIM:619980
Chromosome 16Q22 Deletion Syndrome
Posteriorly rotated ears, Broad hallux, Depressed nasal bridge, Micrognathia, Microcephaly, Hyper... OMIM:614541
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Absent frontal sinuses, Knee flexion contracture, Increased density of l... OMIM:305620
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Prominent nose, Hypert... OMIM:201170
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarctio... ORPHA:95409
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Pectus excavatum, Pectus carinatum, Microcephaly OMIM:259410
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Vascular calcification, Thromboc... OMIM:231000
Fetal Encasement Syndrome
Decreased fetal movement, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:180700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Mixed hearing impairment, Short femur, Depressed nasal bridge, Talipes, Micrognathia,... OMIM:300990
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, M... OMIM:616920
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowing, Atr... ORPHA:1915
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... OMIM:617872
Emanuel Syndrome
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Ventricular septal defect, Tru... OMIM:609029
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectas... ORPHA:2136
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Contracture of th... OMIM:618223
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Hypospadias, Micrognathia, Microcephaly, Hypertelorism, Short ... ORPHA:98791
Thanatophoric Dysplasia
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios ORPHA:2655
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... ORPHA:99826
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Bangstad Syndrome
Short stature, Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Deeply set e... ORPHA:1227
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Hearing abnormality, Cryptorchidis... ORPHA:2077
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:1926
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... OMIM:616828
Donnai-Barrow Syndrome
Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... OMIM:222448
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Premature birth, Polyhydramnios OMIM:611087
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r... ORPHA:525731
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect... ORPHA:84064
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Micrognathia, Prominent nose, Protruding ear, Hypotelorism, Deeply set eye... OMIM:612474
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypo... OMIM:619991
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, Pulmonary arterial hyperten... OMIM:614857
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Hearing impairment, Cardiomegaly ORPHA:3137
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Highly arched eyebrow ORPHA:94066
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Inverted Duplicated Chromosome 15 Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, Tetralogy of Fallot, Downslanted ... ORPHA:3306
Immunodeficiency 54
Hepatomegaly, Microcephaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural kil... OMIM:609981
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Premature thelarche, Micrognathia, Prominent nose, ... OMIM:180849
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Protruding ear, Deeply set eye, Micropenis, Hypospadias, Tapered finger, Abn... ORPHA:268261
Steel Syndrome
Carpal synostosis, Pes planus, Anteverted nares, Hypertelorism, Sensorineural hearing impairment,... OMIM:615155
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Activated Pi3K-Delta Syndrome
Hepatomegaly, Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopen... ORPHA:397596
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Turnpenny-Fry Syndrome
Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Conductive hearing... OMIM:618371
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventric... OMIM:618804
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Cardiac arrest, Myocarditis, ... ORPHA:139402
Orofaciodigital Syndrome Type 3
Hypertelorism, Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydac... ORPHA:2752
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Prominent protruding coccyx, Protruding ear, Deeply set eye, Thickened helices, Chronic otitis me... OMIM:300966
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:608779
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs OMIM:259440
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Uplifted earlobe, Micrognathia, Micropenis, Patent foramen ovale, Anteve... OMIM:619841
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Clinodactyly, Clitoral hypoplasia, Micropenis, Short phala... OMIM:616894
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Hallux valgus, Arachnodactyly, Rhizomelia, Overlapping toe, Mi... ORPHA:3379
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Myocardial infarction, Pectus excavatum, Pectus carinatum, Mitral valve prolapse OMIM:236200
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Large for gestational age, Splenomegaly, Obesity,... OMIM:605309
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Pectus carinatum, Cortical thickening of long bone diaphyses, Otitis media, Hypop... ORPHA:309282
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Bowing of the legs, Coxa valga, Pectus excavatum, Coxa vara, Bel... OMIM:619131
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent ey... ORPHA:740
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Short Stature, Dauber-Argente Type
Short stature, Microcephaly, Postnatal growth retardation, Fasting hyperinsulinemia, Increased in... OMIM:619489
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Hepatic s... ORPHA:98908
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Pes planus, Decreased muscle mass, Thoracic scoliosis, Abnormal pinna morphology, Thoracic kyphos... ORPHA:1900
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Houge-Janssens Syndrome 3
Epicanthus, Microcephaly, Muscular ventricular septal defect, Macrocephaly, Atrial septal defect OMIM:618354
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Epicanthus, Thick eyebrow, Abnormal heart morphology, Abnormal tricuspid valve... ORPHA:485405
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Sprengel anomaly, Pectus carinatum,... ORPHA:800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Pectus excavatum, Right bundle branc... OMIM:618590
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Mandibulofacial Dysostosis, Guion-Almeida Type
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, At... OMIM:610536
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Prominent nose, Bilateral cryptorchid... OMIM:150230
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Missing ribs, Situs inversus totalis, Pectus excavatum, Short thorax, Rib fusion, B... OMIM:613686
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Obesity, Narrow palpebral fissure, Aortic root aneurysm, Macrocephaly, ... ORPHA:404443
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in infancy, Splenomegaly, Leukocytosis, Death in adolescence, Death in childhood OMIM:618042
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... ORPHA:363958
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Hypertelorism, Pectus excavatum, Abnormal heart morphology, Large hands, Low-set ears, Macrocepha... OMIM:613675
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism, Cryptorchidism, Protruding ... OMIM:619123
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Shashi-Pena Syndrome
Ptosis, Epicanthus, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Patent ductus arteri... OMIM:617190
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Microcephaly, Patent duc... OMIM:617751
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Elevated circulating creatine kinase co... ORPHA:94093
Pontocerebellar Hypoplasia, Type 17
Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, U... OMIM:619909
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Polyhydramnios ORPHA:96190
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Jaundice, He... ORPHA:167
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Long fingers, Hyper... OMIM:156610
Woods Syndrome
3-4 finger cutaneous syndactyly, Ventricular septal defect, Wide nasal bridge, Low hanging columella OMIM:615236
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Endocrine-Cerebroosteodysplasia
Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Hypotelorism, Deepl... OMIM:612651
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Deeply set eye, Hepatic steatosis, Accessory spleen, Hepatomega... OMIM:619418
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hal... OMIM:300963
D-Bifunctional Protein Deficiency
Hepatomegaly, Decreased muscle mass, Depressed nasal bridge, Micrognathia, Hypertelorism, Splenom... OMIM:261515
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal pinna morphology, Anteve... OMIM:309583
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Myoc... ORPHA:319213
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Atrial septal defect, Br... OMIM:615873
Joubert Syndrome 37
Hepatomegaly, Wide nose, Posteriorly rotated ears, Anteverted nares, Postaxial polydactyly, Hyper... OMIM:619185
Cole-Carpenter Syndrome 2
Microretrognathia, Hypertelorism, Pectus excavatum, Thin ribs, Proptosis, Macrocephaly, Narrow il... OMIM:616294
Frontometaphyseal Dysplasia
Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Conductive hearing impair... ORPHA:1826
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Epicanthus, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Downslanted palpebr... OMIM:620075
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, C... OMIM:618886
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... OMIM:610505
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... ORPHA:1596
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Micrognathia, Precocious puberty, Pectus excavatum, Upper limb undergrowt... ORPHA:369837
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating creatine kinase concent... OMIM:164310
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Renpenning Syndrome 1
Micrognathia, Narrow foot, Protruding ear, Clinodactyly of the 5th finger, Atrial septal defect, ... OMIM:309500
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... OMIM:280000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Lipoatro... ORPHA:51
Nail-Patella Syndrome
Pes planus, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Pectus ... OMIM:161200
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Pectus excavatum, Flared metaph... OMIM:615349
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Pes cavus, Ventricular septal defect, Micrognathia, Hypertelorism, Pectus excavatum, Abnormal tib... ORPHA:363700
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Atrial septal defe... ORPHA:97360
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta ORPHA:1923
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Micrognathia, Hearing abno... ORPHA:1352
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios OMIM:616546
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... ORPHA:79240
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... OMIM:617102
Monosomy 13Q34
Pes planus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Microcephaly, Micrognath... ORPHA:96168
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebral fissure, S... OMIM:613680
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Pect... ORPHA:175
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Triploidy
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... ORPHA:3376
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Tetanus
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration ORPHA:3299
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Malan Syndrome
Coxa valga, Pectus excavatum, Long fingers, Macrocephaly, Short nose OMIM:614753
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Microcephaly, Hypoplastic left heart, Macrocephaly, Atrial septal defect, ... OMIM:619721
Mandibulofacial Dysostosis-Microcephaly Syndrome
Epicanthus, Telecanthus, Upslanted palpebral fissure, Secondary microcephaly, Atrial septal defect ORPHA:79113
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Microcep... OMIM:609069
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly ORPHA:261190
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... ORPHA:79319
Kabuki Syndrome 2
Epicanthus, Highly arched eyebrow, Microcephaly, Coarctation of aorta, Eversion of lateral third ... OMIM:300867
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Short stature, Splenomegaly,... OMIM:615630
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Patent ductus ... OMIM:251290
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegal... OMIM:615673
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Mosaic Trisomy 1
Thoracic scoliosis, Congenital diaphragmatic hernia, Finger clinodactyly, Micropenis, Absent dist... ORPHA:1692
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Short stature, Small for gestational age, Precocious puberty, Insulin-resistant dia... OMIM:262190
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Short stature, Thrombocytopenia, Cerebellar hemorrhage,... OMIM:606054
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Microcephaly, Ragged-... OMIM:530000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Ventricular septal defect, Thick eyebrow, Highly arched eyebrow, Microce... OMIM:617360
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Abruzzo-Erickson Syndrome
Atrial septal defect, Epicanthus ORPHA:921
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con... OMIM:602080
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen ... OMIM:261750
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Ventricular septal defect, Lacrimal duct stenosis, Microcephaly, Patent ductus arteri... ORPHA:457193
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Protruding ear, Thick nasal septum, Pectus carinatum, Th... OMIM:303600
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Synostosis of carpal bones, Depress... ORPHA:90652
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Pes planus, Thoracic scoliosis, Arachnodactyly, Sandal gap, Phalangeal dislocation... ORPHA:536532
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Anteverted nares, Microcephaly, Broad nasal tip, H... OMIM:615583
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Decreased muscle mass, Anteverted nares, Micrognathia, Hypertelorism, Metaphyseal w... ORPHA:73230
Al-Raqad Syndrome
Atrial septal defect, Microcephaly OMIM:616459
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Pes planus, Micrognathia, Pectus excavatum, Abnormality of the lower limb, Abnormal thorax morpho... ORPHA:1979
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia OMIM:602196
Proximal Xq28 Duplication Syndrome
Pectus excavatum, Cryptorchidism, Hypospadias ORPHA:1762
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... OMIM:263750
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypertelorism, External ear... ORPHA:2673
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Mosaic Variegated Aneuploidy Syndrome 2
Epicanthus, Small for gestational age, Ventricular septal defect, Microcephaly, Blepharophimosis,... OMIM:614114
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypertelorism, Postnatal growth retardation, Obesity, Hypotelo... ORPHA:439822
Skin Creases, Congenital Symmetric Circumferential, 2
Pes planus, Small scrotum, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Mi... OMIM:616734
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Sprengel anomaly, Micropenis, Cryptorchidism, Humeroradial... OMIM:134780
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Pectus carinatum, Thickened helices, Small earlobe, Long toe, Arachnodacty... ORPHA:3063
Wrinkly Skin Syndrome
Microretrognathia, Pes planus, Scapular winging, Congenital hip dislocation, Hypoplasia of the mu... OMIM:278250
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Hypot... OMIM:618454
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, Pectus excavatum, Increased variability in muscle fiber diameter, Hypotelorism, Inc... ORPHA:502423
8P11.2 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Externa... ORPHA:251066
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Wide penis, Abnormality of the ear, Hypoplastic verteb... ORPHA:3455
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occ... ORPHA:2311
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Deeply set eye, Ambiguous... OMIM:260660
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Darwin tubercle o... OMIM:619122
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... ORPHA:905
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Anteriorl... OMIM:276820
Johanson-Blizzard Syndrome
Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, H... OMIM:243800
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Pectus excavatum, Plantar pits, Abnormal rib morphology, Cardi... ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Hallux valgus, Pes planus, Narrow nasal bridge, Ventricular septal defect,... OMIM:300967
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... ORPHA:449285
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Felty Syndrome
Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Weight loss, Bone ma... ORPHA:47612
Takenouchi-Kosaki Syndrome
Posteriorly rotated ears, Overlapping toe, Proximal placement of thumb, Tapered finger, Hypertelo... OMIM:616737
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Talipes, Anteverted nare... ORPHA:276413
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Premature thelarche, Microcephaly, E... OMIM:616878
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all ... OMIM:614749
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Epicanthus, Almond-shaped palpebral fissure, Mitral valve prolapse, Secondary microcephaly, Atria... OMIM:300986
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Primary Pulmonary Hypoplasia
Epicanthus, Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, Secundum atrial septal... ORPHA:2257
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial septal defect ORPHA:2519
Joubert Syndrome 18
Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly OMIM:614815
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Hydrocephaly-Low Insertion Umbilicus Syndrome
Epicanthus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Hypertelorism, Fractures of th... ORPHA:496641
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Greenberg Dysplasia
Micromelia, Micrognathia, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hypoplastic verteb... OMIM:215140
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... ORPHA:235
Warsaw Breakage Syndrome
Epicanthus, Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:613398
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Vasculitis, Macrocephaly, Del... ORPHA:575
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Posteriorly rotated ears, Broad nasal tip, Prominent crus of h... OMIM:619194
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depres... OMIM:114290
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exc... OMIM:271225
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Prominent nasal bridge, Micrognathia, Pectus excavatum, Sensorineural hearing impair... OMIM:609944
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Highly... ORPHA:363528
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
White Forelock With Malformations
Atrial septal defect, Epicanthus ORPHA:2475
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen ovale, Hepatomeg... OMIM:269860
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Cardiac conduction abnormality, Dilated cardiomyopathy, Low plas... ORPHA:255210
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Upslanted palpebral fissure, Ventricular septal ... ORPHA:75389
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Diastasis recti, Anteverted nares, Depressed nasal bridge, Pectus exca... ORPHA:254528
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Wide nose, Anteverted nares, Angina pectoris, Micrognathia, Pectus excav... ORPHA:109
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... ORPHA:1272
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... OMIM:601847
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Miscarriage, Splenomegaly, Peripheral arterial... ORPHA:71493
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Micrognathia, Hypoplasia ... ORPHA:2020
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Overlapping toe, Anteverted nares, Hypospadias, Micrognathia, Microcephaly, Underd... OMIM:613026
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Protruding ear, Atrial septal defect, Microretrognathia, Tricuspid regurgitation, Arachnodactyly,... OMIM:601776
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Absence of stomach bubble on f... OMIM:314390
Mowat-Wilson Syndrome
Bifid scrotum, Ventricular septal defect, Hypospadias, Uplifted earlobe, Microcephaly, Hypertelor... OMIM:235730
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardial effusion, Vascular ... OMIM:219730
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure ORPHA:75234
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Joubert Syndrome 3
Atrial septal defect, Epicanthus, Highly arched eyebrow, Ptosis OMIM:608629
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Fanconi Anemia, Complementation Group N
Aplastic anemia, Epicanthus, Ventricular septal defect, Microcephaly OMIM:610832
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Aplasia of the abdominal wall muscu... OMIM:100100
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Epicanthus, Sparse eyebrow, Camptodactyly, Atrial septal defect, Aortic va... ORPHA:459061
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Epicanthus, Small for gestational age, Dextrocardia, Megaloblastic anemia, Thromboc... OMIM:277380
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... ORPHA:293978
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, Shor... OMIM:143095
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Microcephaly, Tapered finger, Muscular ventricular septal defect, Short thumb, Spl... OMIM:618569
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Microcephaly, Blepharophimosis, Patent ductus arteriosus... OMIM:300166
Seckel Syndrome 9
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her... OMIM:616777
Sialuria
Hepatomegaly, Hypertelorism, Splenomegaly, 2-3 toe syndactyly, Wide nasal bridge, Macroglossia, L... OMIM:269921
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Microcephaly, Hypertelorism, Pectus excavatum, Hip dislocation, Dee... OMIM:617729
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Microcephaly, Vascular dilatation, Patent ductus arteriosu... ORPHA:2637
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic hernia, Micrognathia, Microce... OMIM:614437
Emanuel Syndrome
Decreased fetal movement, Multiple joint contractures, Ventricular septal defect, Truncus arterio... ORPHA:96170
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no... OMIM:617925
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Osteogenesis Imperfecta
Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morpholo... ORPHA:666
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Buratti-Harel Syndrome
Epicanthus, Dilation of Virchow-Robin spaces, Atrial septal defect, Sparse medial eyebrow, Downsl... OMIM:619314
Campomelic Dysplasia
Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia, Depressed n... ORPHA:140
Aa Amyloidosis
Hepatomegaly, Cholestasis, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothy... ORPHA:85445
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... OMIM:301068
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Epicanthus, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Microcephaly, Sparse eyebrow... OMIM:619720
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Myositis, Elevated circulating creatine kinase concentration, Myoc... ORPHA:36234
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Epicanthus, Ventricular septal defect, Blepharophimosis, Patent ductus a... ORPHA:435638
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... OMIM:115470
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Patent ductus arteriosus, Dysplas... OMIM:612863
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... OMIM:137940
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Pancreatic fibrosis, Short stature, Hypertelo... OMIM:616263
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... OMIM:616050
Phaver Syndrome
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctat... ORPHA:2876
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice OMIM:224120
Sandhoff Disease, Infantile Form
Progressive macrocephaly, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, Cherry... ORPHA:309155
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Microcephaly, Decreased body weight OMIM:618665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Sensorineural hearing i... OMIM:239300
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... OMIM:607823
Cerebrofacioarticular Syndrome
Syndactyly, Hypospadias, Microcephaly, Micrognathia, Bilateral choanal atresia/stenosis, Hypertel... ORPHA:314679
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Fing... ORPHA:2378
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Radio-Tartaglia Syndrome
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Long eyebrows, Synoph... OMIM:619312
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Protruding ear, Tricuspid valve prol... ORPHA:1973
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Synophrys, Secondary microcephaly, Long eyelashes, Arthrogryposis mult... OMIM:614961
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Microcephaly, Neutropenia, Decreased body weight, Atrial septal defect... OMIM:609053
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Microcephaly, Leukocytosis, Wide nasal br... ORPHA:99812
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lympha... ORPHA:538
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Epicanthus, Failure to thrive, Secondary microcephaly OMIM:620242
Johnson Neuroectodermal Syndrome
Absent eyebrow, Facial palsy, Microcephaly, Absent eyelashes, Tetralogy of Fallot, Failure to thr... ORPHA:2316
Cohen Syndrome
Small for gestational age, Microcephaly, Mitral valve prolapse, Leukopenia, Neutropenia, Childhoo... OMIM:216550
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Reduced number ... ORPHA:52
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... ORPHA:100078
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebr... OMIM:610759
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Brachydactyly, Ventricular septal defect, Hypospadias, Micr... OMIM:163950
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th... ORPHA:5
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim... OMIM:620327
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Pes planus, Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasa... OMIM:619525
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Pat... ORPHA:293939
Nail-Patella Syndrome
Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,... ORPHA:2614
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Microcephaly, Upslanted palpebral fissure, Macroglossia, Atrial septal defect ORPHA:93947
Congenital Myopathy 17
Diaphragmatic eventration, Overlapping toe, Tapered finger, Pectus excavatum, Myopathy, Distal ar... OMIM:618975
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... ORPHA:39041
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum... ORPHA:1101
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... ORPHA:199
3Mc Syndrome 1
Conjunctival telangiectasia, Telecanthus, Ventricular septal defect, Diastasis recti, Highly arch... OMIM:257920
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Telecanthus, Facial hypotonia, Mitral valve prolapse, Downslanted palpebral fissures, Camptodacty... OMIM:615539
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, Atrial... OMIM:613795
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microcephaly, Cryptorchidism, Sensorineural hearing impairm... ORPHA:250989
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Vertigo, Cardiomyopathy, Limb muscle weakness OMIM:619259
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Hypertelorism, Planta... OMIM:109400
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Camptodactyly, Atrial septal defect, Joint co... OMIM:611961
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... ORPHA:14
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Cherry red spot of the macula, Failure to thrive OMIM:228000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Downslanted palpebral fi... OMIM:616901
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Microcephaly OMIM:619356
Desbuquois Syndrome
Abnormal eyelash morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular se... ORPHA:1425
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart valve morphology, Short statu... OMIM:309900
Neonatal Marfan Syndrome
Long toe, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Long fingers, Abnormal cardiac v... ORPHA:284979
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, ... OMIM:222765
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper... OMIM:602579
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Upslanted palpebral fissure, Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Relative macrocephaly, Telecanthus, Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly... ORPHA:397709
Craniometaphyseal Dysplasia
Depressed nasal bridge, Facial palsy, Hypertelorism, Sensorineural hearing impairment, Wide nasal... ORPHA:1522
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:618109
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Congenital Disorder Of Glycosylation, Type Iic
Microcephaly, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Premature birth, Abnormal pulmonary valve morphology, Portal hyperte... ORPHA:974
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hypertelorism, Cryptorchidism, Wide nasal bridge, Abnormal heart morphology, Hearing... OMIM:601499
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency ORPHA:452
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Pes planus, Arachnodactyly, Bicuspid aortic valve, Transient ischemic attac... ORPHA:91387
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Ptosis OMIM:147800
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular bl... ORPHA:581
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Mixed hearing impairment, Hypertelorism, Pectus excavatum, Wide nasal bridge, A... OMIM:201180
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Clino... ORPHA:264450
Chromosome 18Q Deletion Syndrome
Epicanthus, Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in infan... OMIM:601808
Gitelman Syndrome
Prolonged QT interval, Hypomagnesemia, Rhabdomyolysis, Ventricular tachycardia, Growth delay, Hyp... OMIM:263800
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Hypotension, Failure... OMIM:203400
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Failu... OMIM:617591
Distal Deletion 9P
Low-set, posteriorly rotated ears, Hypospadias, Hypertelorism, Aplasia/Hypoplasia of the earlobes... ORPHA:1642
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Wide nasal bridge, Lacunar... OMIM:618440
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus... OMIM:170100
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Prominent eyelashes, Upslanted palpebral fissure, Long palpebral fissure, Failure t... OMIM:619179
Marfan Syndrome
Decreased muscle mass, Genu recurvatum, Bicuspid aortic valve, Micrognathia, Equinus calcaneus, F... OMIM:154700
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Highly arched eyebrow, Microcephaly, Synophrys, Obesity, Conotruncal defect, C... ORPHA:96147
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, ... OMIM:235255
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... ORPHA:90041
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Microcephaly, Flexion contracture, Absen... OMIM:614098
Peters-Plus Syndrome
Hypoplasia of the vagina, Proximal placement of thumb, Micrognathia, Short metatarsal, Protruding... OMIM:261540
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Epicanthus, Abnormal mitral valve morphology, Microcephaly, Biparietal narrowing, Atrial septal d... ORPHA:1292
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Microcephaly, Broad nasal tip, Hypertelorism, Sensorineural hearing impairment, Wide nasal bridge... OMIM:614207
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Pectus excavatum, Cryptorchidism, Cli... OMIM:618505
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemi... ORPHA:134
Neurocardiofaciodigital Syndrome
Small for gestational age, Microcephaly, Sparse eyebrow, Patent ductus arteriosus, Tetralogy of F... OMIM:619869
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare... OMIM:619879
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Epicanthus, Long palpebral fissure, Primary microcephaly OMIM:620183
Hurler Syndrome
Hepatomegaly, Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of fin... ORPHA:93473
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Microcephaly, Intrauteri... ORPHA:2609
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Lipod... ORPHA:39812
Carpenter Syndrome 1
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Obesity, Joint cont... OMIM:201000
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis ORPHA:288
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Hepatob... ORPHA:116
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Hypertelorism, Broad ischia, ... OMIM:619727
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ... ORPHA:90794
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... ORPHA:158061
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Posteriorly rotated ears, Depressed nasal bridge, Postaxial polydactyly, Tapered finger, Lower li... OMIM:300968
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Growth delay, Secondary microcephaly, Bradycardia, Neutropenia, Failure to thrive, Neon... OMIM:617248
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Atrial septal de... OMIM:157800
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Sparse lateral eyebrow OMIM:617616
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Abnormal aorti... ORPHA:261197
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Abnormal pinna morphology, Hypospadias, Pectus excavatum, Talipes equinovarus,... OMIM:177980
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... ORPHA:36238
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Neonatal hypoglycemia, Car... OMIM:130650
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Microcephaly, Tapered finger, Hypertelorism, Pectus e... ORPHA:319182
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro... ORPHA:98907
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Hallermann-Streiff Syndrome
Prominent nasal bridge, Micrognathia, Microcephaly, Underdeveloped nasal alae, Metaphyseal wideni... OMIM:234100
Macs Syndrome
Pes planus, Hypergonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, Wide ... OMIM:613075
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Epicanthus, Telecanthus, Patent ductus arteriosus after bir... ORPHA:251061
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Downslanted palpebral fissures, Epicanthus, Ventricular septal defect, Biparietal narrowing ORPHA:1770
Diamond-Blackfan Anemia 21
Unilateral ptosis, Microcephaly, Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, ... OMIM:620072
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... ORPHA:95430
Au-Kline Syndrome
Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga, Prominent nasal bridge, Und... OMIM:616580
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Ramos-Arroyo Syndrome
Dacryocystitis, Patent ductus arteriosus, Nasolacrimal duct obstruction, Upslanted palpebral fiss... ORPHA:1051
3Q29 Microduplication Syndrome
Ventricular septal defect, Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodacty... ORPHA:251038
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrocephaly OMIM:618504
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Weakness of fac... OMIM:602668
Holoprosencephaly 14
Ventricular septal defect, Microcephaly, Aortic valve atresia, Macrocephaly, Double outlet right ... OMIM:619895
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Short stature, Microcephaly, Neutropenia, Atrial septal defect, Intrauterine growth... OMIM:618005
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Hypertelorism, Bilateral cryptorchidism, Congestive heart failure, Bulbo... OMIM:617403
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Thick eyebrow, Short stature, Hypertelorism, Splenomegaly, Achille... OMIM:252940
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Watson Syndrome
Relative macrocephaly, Posteriorly rotated ears, Hypertelorism, Pectus carinatum, Low-set ears, P... OMIM:193520
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Cong... ORPHA:579
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Cholecystitis, Increased serum... ORPHA:778
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Downslanted palpebral fissures, Facial hypotonia OMIM:614526
Osteopathia Striata-Cranial Sclerosis Syndrome
Posteriorly rotated ears, Facial palsy, Micrognathia, Large iliac wing, High iliac wing, Wide nas... ORPHA:2780
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical l... ORPHA:50918
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Anteverted nares, Micrognathia, Wide nasal bridge, Micropenis, Hydrocele testis, Hy... OMIM:618810
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Na... OMIM:620113
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygia, Microcephaly, E... OMIM:178110
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Short stature, Increa... OMIM:222470
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ... ORPHA:124
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Cone-shaped epiphysis, Sh... OMIM:614185
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Short stature, ... OMIM:232200
Wrinkly Skin Syndrome
Pes planus, Decreased muscle mass, Congenital hip dislocation, Broad nasal tip, Hypertelorism, Cr... ORPHA:2834
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Failure to thrive, Small for gestational age, Microcephaly OMIM:620194
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi... OMIM:620233
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong... ORPHA:67
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Tibial bowing, H... OMIM:269150
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, Do... ORPHA:447980
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hai... OMIM:252900
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Branchioskeletogenital Syndrome
Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Depressed nasal bri... ORPHA:1299
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Orthostatic hypotension due to au... OMIM:105210
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Weight loss ORPHA:221098
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... ORPHA:91547
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Micro... OMIM:613457
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Talipes, Microcephaly, Metatarsus adductus, Coxa valga, Avascu... ORPHA:2557
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Microcephaly, Skeletal muscle hypertrophy, Decreased body weight, Fail... OMIM:617164
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... ORPHA:1708
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Ptosis, Blepharophimosis, Microcephaly ORPHA:2728
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c... OMIM:557000
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... OMIM:265000
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Depressed nasal bridge, Hypertelorism, Abnormal heart morphology, He... ORPHA:79076
Costello Syndrome
Epicanthus, Ventricular septal defect, Failure to thrive in infancy, Mitral valve prolapse, Macro... ORPHA:3071
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... OMIM:615962
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Pectus excavatum, Limb hypertonia, Overfolded helix, Microcephaly ORPHA:488613
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmat... OMIM:619503
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Microcephaly, Proptosis, Hypo... ORPHA:2135
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Mullegama-Klein-Martinez Syndrome
Pes planus, Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Microcephaly, ... OMIM:301022
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Intraventricular hemorrhage,... OMIM:616430
Ververi-Brady Syndrome
Upslanted palpebral fissure, Ptosis, Transposition of the great arteries, Microcephaly OMIM:617982
Tyrosinemia, Type I
Acute hepatic failure, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia, Elevated hepatic ... OMIM:276700
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Dilated cardiomyopathy, Abnormal blood ion concentration, Growth delay, Bradycardia, Na... ORPHA:79404
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Sparse eyebrow, Blepharophimosi... OMIM:244450
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Microcephaly, Pectus excavatum, Sensorineural hearing impairment, Camptodactyly, ... OMIM:610474
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Aplasia/Hypoplasia o... ORPHA:646
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Relative macrocephaly, Epicanthus, Ventricular septal defect, Large for gestational age, Long eye... OMIM:607721
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Posteriorly rotated ears, Ventricular septal defect, Anteverted ... OMIM:300000
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Cachexia, Microcephaly, Sparse or absent eyelashes, Failure to thrive,... ORPHA:217346
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Splenomegal... OMIM:607765
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Hypotelorism, Deeply set e... ORPHA:2162
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... OMIM:616483
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Micrognathia, Hypertelorism, Low-set ears, Micropen... OMIM:618021
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Zellweger Syndrome
Hepatomegaly, Death in infancy, Failure to thrive, Ventricular septal defect, Microcephaly, Jaund... ORPHA:912
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Genu recurvatum, Micrognathia, Flexion contracture, Pectus carinatum, Narrow chest, Dislocated ra... OMIM:130070
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Anteverted nares, Depressed nasal bridge, Asymmetry of the ears, Hypertelorism... OMIM:619124
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Death in infancy, Ele... OMIM:300972
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Secondary microcephaly, Death in childhood, ... OMIM:612938
Fryns Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Hypospadias, Congenital diaphragmatic hernia... ORPHA:2059
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hernia, Hirsut... OMIM:252930
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Limbal dermoid, Eyelid coloboma, Subvalvular aortic stenosis, Atrial s... OMIM:613001
Elsahy-Waters Syndrome
Bifid scrotum, Wide nose, Posteriorly rotated ears, Anteverted nares, Hypospadias, Hypertelorism,... OMIM:211380
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Bradycardia OMIM:608800
Chops Syndrome
Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalo... OMIM:616368
Cowden Syndrome 6
Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... OMIM:615109
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Depressed nasal bridge, Telangiectasia of the skin, Cardiomega... ORPHA:79280
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Sparse hair, Lower limb muscle weakness, De... OMIM:606721
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Short stature, He... OMIM:232220
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Atrial septal defect, Downslanted palpebral ... OMIM:616449
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Hypertelorism, Flexion contracture, Wide nasal bridge, Depressed nasal... OMIM:619306
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Vasculitis, Lymphadenopathy, Increased ... OMIM:617099
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios ORPHA:1790
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Then... OMIM:607015
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr... OMIM:208150
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Mitral valve prolapse ORPHA:2233
Sotos Syndrome
Ventricular septal defect, Sparse eyebrow, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Microcephaly, Almond-shaped palpebral fissure, Epiblepharon, Downslant... OMIM:619103
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Stickler Syndrome Type 1
Short nose, Mitral valve prolapse ORPHA:90653
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... ORPHA:131
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Microcephaly, Pectus excavatum, Sensorineural hearing impairment, Narrow chest... OMIM:620237
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Microcephaly, Patent ductus arteriosus, Cor... OMIM:620024
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Microcephaly, Secundum atrial septal defect, Facial diplegia, Hypertrophic... OMIM:619121
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Facial hypotonia, Postaxial polydactyly, Anteverted nares, Hypertelorism, Pectus ex... ORPHA:457284
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Microcephaly, Almond-shaped palpebral fissure, Anemia, Downslanted ... ORPHA:261323
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Sparse eyelashes, Absent eyelashes, Patent ductus arteriosus, Lacrimal... OMIM:106260
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Decreased fetal movement, Hepatic failure, Hypertension OMIM:619758
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Microcephaly, Macrocephaly, Atrial septal defect, Downslanted palpebral fissures, Right atrial en... OMIM:615219
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Mitral valve prolapse ORPHA:2183
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Blepharophimosis, Broad eyebrow... ORPHA:494344
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... OMIM:620025
Lethal Kniest-Like Dysplasia
Atrial septal defect, Breech presentation, Polyhydramnios, Edema ORPHA:2347
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... OMIM:235555
Cowden Syndrome 5
Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... OMIM:615108
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis ORPHA:79292
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Hypertelorism, Postnatal growth retarda... ORPHA:1655
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Microcephaly, Broad skull, Patent ductus arteriosus, Bilateral ptosis,... ORPHA:163979
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... OMIM:617718
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Highly arched eyebrow, Microcephaly, Secundum atrial septal defect, Upsl... OMIM:615802
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Abnormal heart morphology, Up... ORPHA:404440
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Lissencephaly 9 With Complex Brainstem Malformation
Epicanthus, Ventricular septal defect, Microcephaly OMIM:618325
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger syndactyly, Hypospadias, Ta... OMIM:200990
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoi... OMIM:613179
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ven... OMIM:614866
Toriello-Carey Syndrome
Brachydactyly, Abnormal pinna morphology, Microcephaly, Micrognathia, Cryptorchidism, Cardiomyopa... ORPHA:3338
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis ORPHA:70578
Char Syndrome
Downslanted palpebral fissures, Patent ductus arteriosus, Ventricular septal defect, Ptosis ORPHA:46627
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Pectus carinatum, Partial absence of toe, Hepatomegaly, Ant... ORPHA:955
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Flexion contracture, Ventricular septal defect, Microcephaly ORPHA:79243
Scrub Typhus
Splenomegaly, Myocarditis, Hypotension, Lymphadenopathy ORPHA:83317
C Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Anteverted nares, Talipes, Micromelia, Microce... ORPHA:1308
Jacobsen Syndrome
Broad columella, Long hallux, Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syn... ORPHA:2308
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... ORPHA:100079
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Short nose, Ventricular septal defect, Microcephaly ORPHA:3078
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Micrognathia, Choanal stenosis, Conductive hearing impairment, Severe sensori... OMIM:620186
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Distal Triplication 15Q
Telecanthus, Large for gestational age, Patent ductus arteriosus, Flexion contracture, Hypoplasti... ORPHA:314588
Loeys-Dietz Syndrome 2
Syndactyly, Pes planus, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Micrognathia,... OMIM:610168
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Anteverted nares, Microcephaly, Micrognathia, Hypertelorism, Cupped ear, Wide nasal... OMIM:617062
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Anemia, Iron deficiency anem... ORPHA:79408
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Cowden Syndrome 1
Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... OMIM:158350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Abnormal heart morphology, Macrog... ORPHA:453499
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... ORPHA:99829
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneous finger syndactyly, Choanal stenosis, C... OMIM:219000
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Hypertelorism, Cryptorchidism, Split hand, Clubbing, Tetr... OMIM:600460
Coffin-Siris Syndrome 4
Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Micr... OMIM:614609
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Broad eyebrow, Highly arched eyebrow, Microcephaly, Primary microcephaly, Atrial septal defect, T... ORPHA:457351
American Trypanosomiasis
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath... ORPHA:3386
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis OMIM:202650
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Chr... ORPHA:280
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Microcep... OMIM:609460
Occipital Horn Syndrome
Pes planus, Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Pectus exc... OMIM:304150
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy, Otitis externa ORPHA:294023
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:261537
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Ventricular septal defect, Microcephaly, Keratoconjunctivitis sicca OMIM:234050
Velocardiofacial Syndrome
Ventricular septal defect, Microcephaly, Blepharophimosis, Narrow palpebral fissure, Interrupted ... OMIM:192430
Myopathy, Mitochondrial, And Ataxia
Micrognathia, Pectus excavatum, Distal amyotrophy, Increased variability in muscle fiber diameter... OMIM:617675
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Disproportionate short-trunk short stature, Macrog... ORPHA:583
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Growth delay, Adrenal insuffici... ORPHA:427
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Brucellosis
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,... ORPHA:1304
Zaki Syndrome
Congenital diaphragmatic hernia, Microcephaly, Sparse eyebrow, Patent ductus arteriosus, Patent f... OMIM:619648
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Patent ductus arteriosus, Coarctati... OMIM:300514
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosus, Obesit... OMIM:616364
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Hypotens... ORPHA:58
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Arachnodactyly, Diastasis recti, Micrognathia, Prominent nose, Hype... OMIM:618971
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Facial hy... ORPHA:404454
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomega... OMIM:607625
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Pr... ORPHA:904
Cog1-Cdg
Low-set, posteriorly rotated ears, Rhizomelia, Micrognathia, Coxa valga, Hypertelorism, Rib fusio... ORPHA:263508
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... ORPHA:99413
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Cerebral berry aneurysm OMIM:173900
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... ORPHA:881
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Microcephaly, Splenomegal... OMIM:252010
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Anteverted nares, Narrow nasal tip, Hypospadias, Tapered finger, Hypertelorism, Short thumb, Cryp... ORPHA:477993
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Fanconi Anemia, Complementation Group F
Microcephaly, Patent ductus arteriosus, Anemia, Leukopenia, Atrial septal defect, Failure to thri... OMIM:603467
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Collagenoma, Familial Cutaneous
Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicular failure, Tricuspid regu... OMIM:115250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov... ORPHA:505248
Cutis Laxa, Autosomal Recessive, Type Ia
Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly, Pectus excavatum, Supravalvular ao... OMIM:219100
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome... ORPHA:3318
Fragile X Syndrome
Ascending tubular aorta aneurysm, Macrocephaly, Mitral valve prolapse ORPHA:908
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Diamond-Blackfan Anemia 1
Macrocytic anemia, Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplas... OMIM:105650
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Transpos... ORPHA:1780
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... OMIM:145600
Okamoto Syndrome
Primum atrial septal defect, Anteverted nares, Depressed nasal bridge, Hypertelorism, Bifid uteru... ORPHA:2729
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Fryns Syndrome
Bifid scrotum, Proximal placement of thumb, Prominent fingertip pads, Atrial septal defect, Broad... OMIM:229850
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Protruding ear, Tibial bowing, Deeply set eye, Long hallux, Hypertelorism, Large hands, Abnormal ... ORPHA:500095
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Pulmonary embolism, Pectus excavatum, ... ORPHA:394
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Failure to thrive, Sple... OMIM:615512
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, Co... OMIM:617388
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoa... ORPHA:171
Craniofacioskeletal Syndrome
Ventricular septal defect, Microcephaly, Blepharophimosis, Patent ductus arteriosus, Interrupted ... OMIM:300712
Colchicine Poisoning
Hyponatremia, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnorma... ORPHA:31824
Classic Multiminicore Myopathy
Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Failure to thrive, Ri... ORPHA:324604
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... ORPHA:230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Short stature, Delayed pu... ORPHA:79259
Bohring-Opitz Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Flexion contracture, Upslanted palpebral fis... OMIM:605039
Occipital Horn Syndrome
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Aplastic ... ORPHA:198
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Wide nasal bridge, Anemia ORPHA:30
Nablus Mask-Like Facial Syndrome
Posteriorly rotated ears, Sandal gap, Short hallux, Tapered finger, Anteverted nares, Depressed n... OMIM:608156
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Limbal dermoid, Patent ductus arteriosus, Coarctation of a... OMIM:600268
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short phalanx of fi... OMIM:266920
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Overlapping toe, Hypospadias, Proximal placement of thumb, Mic... ORPHA:487796
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Microcephaly, Splenomegaly, Wide nasal bridge, Hepa... OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Premature birth, Polyhydramnios, Con... OMIM:300998
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs OMIM:604919
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Deeply set eye, Hypovo... ORPHA:173
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Small for gestational age, Microcephaly, Reticulocytopen... OMIM:227645
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia OMIM:620296
Trisomy 8Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Hy... ORPHA:1752
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:818
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... OMIM:259050
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short stature ORPHA:66518
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Cutaneous Mastocytoma
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Congenital... OMIM:611812
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:2152
Fanconi Anemia, Complementation Group Q
Biliary atresia, Primum atrial septal defect OMIM:615272
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Omodysplasia 1
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... OMIM:258315
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Abnormal nasolacrimal system morphology, Micr... ORPHA:3047
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Hypotelorism, Clinodactyly of the 5th finger, Atrial ... OMIM:194050
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Toe syndactyly, Mitral atresia, Bulbous nose, Hypoplasia of the radius, Wid... ORPHA:140952
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi... OMIM:603553
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... OMIM:214500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... ORPHA:542323
Spondylo-Ocular Syndrome
Facial hypotonia, Abnormal eyebrow morphology, Ventricular septal defect ORPHA:85194
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, 5-minute AP... ORPHA:141127
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... ORPHA:2388
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmia ORPHA:230839
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Posteriorly rotated ears, Congenital ... ORPHA:2745
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:261552
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Hip contracture, Dry hair, Short stature, Micr... OMIM:216400
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Hypospadias, Microcephaly, Situs inversus totalis, Prom... ORPHA:1449
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Keutel Syndrome
Calcification of the auricular cartilage, Ventricular septal defect, Cartilaginous ossification o... OMIM:245150
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Khan-Khan-Katsanis Syndrome
Failure to thrive, Patent ductus arteriosus after premature birth, Highly arched eyebrow, Microce... OMIM:618460
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... OMIM:257220
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Conductive hearing impairment, Atrial septal defect, Pseudoe... OMIM:194190
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... OMIM:619183
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Micrognathia, Hypertelorism, Upper limb undergrowth, Wide na... ORPHA:529962
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ... OMIM:610682
Kury-Isidor Syndrome
Downslanted palpebral fissures, Ventricular septal defect, Ptosis OMIM:619762
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu... ORPHA:79345
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... ORPHA:1328
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Microcephaly, Pulmonary ... ORPHA:261494
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Kleefstra Syndrome 1
Microcephaly, Synophrys, Obesity, Conotruncal defect, Upslanted palpebral fissure, Macroglossia OMIM:610253
Fg Syndrome Type 1
Progressive flexion contractures, Coarctation of aorta, Mitral valve prolapse, Downslanted palpeb... ORPHA:93932
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
You-Hoover-Fong Syndrome
Hearing impairment, Microcephaly, Pectus excavatum, Clinodactyly, Brachydactyly OMIM:616954
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... ORPHA:217085
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pectus excavatum, Sp... ORPHA:2072
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Prominent nose, Long nose, Bulbous nose, Depressed nasal ridge, ... ORPHA:2769
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Anteverted nares, Diastasis recti, Uplifted earlobe, Micrognathia, Broad nasal tip, Pectus excava... OMIM:618548
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Neuroocular Syndrome
Hyperextensibility of the finger joints, Pes planus, Scapular winging, Genu recurvatum, Microceph... OMIM:619539
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Sparse eyebrow, Left superior vena cava drai... ORPHA:464738
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Neurofibromatosis, Type I
Rhabdomyosarcoma, Hypertelorism, Pectus excavatum, Tibial pseudarthrosis, Genu valgum, Hypertensi... OMIM:162200
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... OMIM:119600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... ORPHA:309854
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypotelorism, Deeply set eye, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Short stature, Po... OMIM:613658
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Patent ductus arteriosus, Achilles tendon contracture, Synophrys, Knee flexion contra... OMIM:618076
Charge Syndrome
Lymphopenia, Overriding aorta, Ventricular septal defect, Pulmonary artery atresia, Microcephaly,... OMIM:214800
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Clinodactyly of the 5th finger, Atrial septal defect, Small earlobe, Anteverted nares,... OMIM:619522
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Thauvin-Robinet-Faivre Syndrome
Epicanthus, Transient neutropenia, Ventricular septal defect, Large for gestational age, Mitral v... OMIM:617107
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... ORPHA:217093
Mosaic Variegated Aneuploidy Syndrome 1
Epicanthus, Small for gestational age, Microcephaly, Embryonal rhabdomyosarcoma, Upslanted palpeb... OMIM:257300
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Wide nasal bridge, Mitral valve prolapse OMIM:247410
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Asplenia, Patent d... OMIM:164280
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Small for gest... OMIM:133540
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Myocarditis, Mediastin... ORPHA:809
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
2Q31.1 Microdeletion Syndrome
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Microcephaly, Synophrys, Atrial s... ORPHA:251014
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left... ORPHA:991
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Coarctatio... ORPHA:1052
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia, Atrial septa... OMIM:268300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Microcephaly, Micrognathia, Hypertelorism, Cryptorchidism, Male ps... ORPHA:2282
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Brachydactyly, Microcephaly, Underdeveloped nasal alae, Hypertelor... OMIM:311200
Atelis Syndrome 2
Microcephaly, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:620185
Mucopolysaccharidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... ORPHA:580
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Oligomeganephronia
Pulmonary venous occlusion, Premature birth, Congenital diaphragmatic hernia, Secundum atrial sep... ORPHA:2260
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Hearing impairment, Enlarged polycystic ovaries... ORPHA:201
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Epicanthus, Dilation of Virchow-Robin spaces, Microcephaly, Almond-shaped palpebral fissure, Bila... OMIM:619512
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Narrow nasal ridge, Diffuse alveolar hemorrhage, Pectus exca... OMIM:130050
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Macrocephaly, Downslanted palpebral ... OMIM:250410
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Costello Syndrome
Curly hair, Ventricular septal defect, Hypoglycemia, Short stature, Hypertelorism, Rhabdomyosarco... OMIM:218040
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Pes planus, Posteriorly rotated ears, Bicuspid aortic valve, Tibial torsion, Microcepha... OMIM:613355
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Small for gestational age, Failure to thrive in infancy, Microcephaly, Flexion contracture, Gener... OMIM:618891
Bilateral Perisylvian Polymicrogyria
Choanal atresia, Microcephaly, Micrognathia, Pectus excavatum, Flexion contracture, Abnormality o... ORPHA:98889
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... ORPHA:3380
Phelan-Mcdermid Syndrome
Epicanthus, Ventricular septal defect, Palpebral edema, Microcephaly, Patent ductus arteriosus, L... OMIM:606232
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... ORPHA:293173
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Upslanted palpebral fissure, ... OMIM:301030
Fanconi Anemia
Abnormal eyelid morphology, Leukopenia, Atrial septal defect, Patent ductus arteriosus, Abnormal ... ORPHA:84
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... ORPHA:96201
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Short metatarsal, Palmoplantar hyperkeratosis, Protrudi... OMIM:216340
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Pectus excavatum, Sensorineural hearing impairment, Dilated ve... OMIM:611584
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly OMIM:612852
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... OMIM:613309
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Downslanted palpebral fissures, Wrist flexion contracture, Peripheral pulmo... ORPHA:436003
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Deeply set eye, Congenital contracture, Hepatomegaly, Contract... ORPHA:191
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Faciocardiomelic Syndrome
Telecanthus, Microcephaly, Large for gestational age, Short eyelashes, Common atrium, Ptosis OMIM:612731
Orofaciodigital Syndrome V
Unilateral ptosis, Ventricular septal defect, Microcephaly, Tetralogy of Fallot, Downslanted palp... OMIM:174300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, M... OMIM:620005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Highly arched eyebrow, Secundum atrial... OMIM:619951
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Patent ductus arteriosus,... OMIM:614080
Intellectual Developmental Disorder, Autosomal Dominant 42
Pes planus, Posteriorly rotated ears, Tapered finger, Pectus excavatum, Sensorineural hearing imp... OMIM:616973
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Posteriorly ro... ORPHA:2211
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia... ORPHA:37042
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Microcephaly, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:209905
Gabriele-De Vries Syndrome
Telecanthus, Facial hypotonia, Aortopulmonary collateral arteries, Sparse eyebrow, Epiblepharon, ... OMIM:617557
Dysosteosclerosis
Ventricular septal defect, Macrocephaly ORPHA:1782
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Hyp... OMIM:241200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Ventricular septal defect OMIM:617895
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Microcephaly, Long nose, Decreased proportion of CD8-positive T cells, Hypereosinop... ORPHA:508533
Prolactinoma
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... ORPHA:2965
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... ORPHA:2751
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:611881
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Short... OMIM:616026
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Microcephaly, Blepharo... ORPHA:261330
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Increased circulating NT-proBNP concentrati... ORPHA:466677
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Menkes Disease
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Micrognathia, Microceph... ORPHA:565
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta... OMIM:601678
Coffin-Siris Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Prominent eyelashes, Abnormal ... ORPHA:1465
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypertelor... ORPHA:306542
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, Knee flexion contracture... OMIM:606170
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Martin-Probst Syndrome
Bifid scrotum, Micrognathia, Microcephaly, Hypertelorism, Sensorineural hearing impairment, Crypt... OMIM:300519
Sitosterolemia 1
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat... OMIM:210250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Loeys-Dietz Syndrome
Pes planus, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Hypertelorism, Micrognathia,... ORPHA:60030
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... OMIM:313850
Zimmermann-Laband Syndrome 1
Short distal phalanx of toe, Hepatomegaly, Hyperextensibility of the finger joints, Posteriorly r... OMIM:135500
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Pes planus, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Pect... OMIM:601552
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Duane-Radial Ray Syndrome
Epicanthus, Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia... OMIM:607323
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Microcephaly, Sparse eyebrow, Mitral valve pro... ORPHA:444072
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Short palm, Larg... ORPHA:2636
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Thickened nuchal skin fold OMIM:620076
Central Core Disease
Mitral valve prolapse ORPHA:597
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Gaucher Disease, Type Ii
Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Anemia, Failure to thrive, Thro... OMIM:230900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Increased nuchal translucency, Patent ductus arteriosus, Proximal muscle weakness in lower limbs,... ORPHA:280633
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperglycerolemia, ... OMIM:307030
Phace Syndrome
Cerebral arteriovenous malformation, Microcephaly, Abnormal heart morphology, Coarctation of aort... ORPHA:42775
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Abnormal heart ... ORPHA:77293
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Telecanthus, Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atria... OMIM:300707
Nipah Virus Disease
Hypotension ORPHA:99825
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... ORPHA:340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Short femur, Short humerus, Microcephaly OMIM:618367
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Microcephaly, Overweight, Obesity, Secondary microcephaly, Decreased b... OMIM:619229
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Pili torti, Trichorrh... OMIM:261990
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Long clavicles, Pectus excavatum, Clubbing, Osteolytic defects of the phalanges of the hand, Palm... OMIM:259100
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Microcephaly, Leukocyto... ORPHA:99843
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Camurati-Engelmann Disease, Type 2
Mitral regurgitation, Mitral valve prolapse OMIM:606631
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Ventricular septal defect, Abnormal nasolacrimal system ... ORPHA:141099
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Marfan Syndrome
Pes planus, Mitral valve calcification, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetab... ORPHA:558
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce... OMIM:232240
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial sep... ORPHA:567
Codas Syndrome
Ventricular septal defect, Broad skull, Atrial septal defect, Atrioventricular canal defect, Ptosis OMIM:600373
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Posterolateral diaphragmatic hernia, Morg... OMIM:613177
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Splenom... ORPHA:32960
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Protruding ear, Deeply set eye, Uterine rupture, Internal hemorrhage,... ORPHA:286
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Mild postnatal gr... ORPHA:90324
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... OMIM:274000
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Alg12-Cdg
Elevated hepatic transaminase, Premature birth, Edema, Polyhydramnios, Muscular ventricular septa... ORPHA:79324
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Witteveen-Kolk Syndrome
Glue ear, Uplifted earlobe, Proximal placement of thumb, Congenital diaphragmatic hernia, Protrud... OMIM:613406
Weill-Marchesani Syndrome 1
Ventricular septal defect, Broad skull, Patent ductus arteriosus, Pulmonic stenosis, Shallow orbi... OMIM:277600
Ring Chromosome 13 Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Anteverted nares, Depre... ORPHA:96176
Prader-Willi Syndrome
Decreased muscle mass, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased respons... OMIM:176270
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Abnormal pinna morphology, Anteverted nares, Congenital diaphragmatic hernia... OMIM:617641
Cohen-Gibson Syndrome
Depressed nasal bridge, Long foot, Coxa valga, Hypertelorism, Long fingers, Cryptorchidism, Flexi... OMIM:617561
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios, Hepatitis, Congenital pulmonary airway malformation, A... ORPHA:436252
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Biparietal narrowing ORPHA:935
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Distal 22Q11.2 Microduplication Syndrome
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Microcephaly, Pa... ORPHA:261337
Meningococcal Meningitis
Shock, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:33475
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... OMIM:236680
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... ORPHA:79318
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, High... OMIM:301044
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Microcephaly, Reduced alpha/beta synthesis ratio, Hypochromic microcyt... OMIM:301040
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Zttk Syndrome
Relative macrocephaly, Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arter... OMIM:617140
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Limb joint cont... OMIM:275210
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Short stature, Splenomegaly, Increased circ... OMIM:222700
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Restrictive Dermopathy
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Polyhydramn... ORPHA:1662
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Breech presentation, Pa... OMIM:214100
Doors Syndrome
Thrombocytosis, Double outlet right ventricle, Wide nasal bridge, Microcephaly ORPHA:79500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Cupped ear... OMIM:619480
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... OMIM:607364
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure ORPHA:43116
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Neonatal death, Sm... OMIM:256520
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Epicanthus, Highly arched eyebrow, Microcephaly, Arteria lusoria, Obesity, Narrow palpebral fissu... OMIM:618653
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Pectus excav... ORPHA:3042
Brittle Cornea Syndrome 1
Macrocephaly, Mitral valve prolapse OMIM:229200
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Camptodactyly OMIM:207410
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... ORPHA:2712
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Sotos Syndrome
Flexion contracture, Pedal edema, Increased head circumference, Conductive hearing impairment, At... ORPHA:821
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Hepatitis, Renovascular hyperte... ORPHA:391487
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Dahlberg-Borer-Newcomer Syndrome
Wide nasal bridge, Mitral valve prolapse ORPHA:1563
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Decreased circulating renin level, Hyponatremia, Hypertelor... OMIM:201750
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis, Elevated hepatic transaminase OMIM:619471
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Ascites, Mitral regurgitation, Mitral valve prolapse ORPHA:2848
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Ventricular septal defect, Microcephaly, Dacryocystitis, Macrocephaly, Dow... ORPHA:251028
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... OMIM:193400
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Cerebellofaciodental Syndrome
Sparse eyebrow, Microcephaly, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Magel2-Related Prader-Willi-Like Syndrome
Almond-shaped palpebral fissure, Flexion contracture, Increased body weight, Abdominal obesity, A... ORPHA:398069
Chime Syndrome
Epicanthus, Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Upslanted palpebral f... ORPHA:3474
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebra... OMIM:616975
Mercury Poisoning
Hypertension, Tachycardia, Hypokalemia, Hypotension ORPHA:330021
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Mitral valve prolapse, Hypertension, A... ORPHA:730
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Degcags Syndrome
Synophrys, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmatic eventration, P... OMIM:619488
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ptosis, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Type 1 muscle fiber atrop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ptosis, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Type 1 muscle fiber atrop... ORPHA:352665
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Microcephaly, Pers... OMIM:619268
Distal Deletion 19P
Thick eyebrow, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Congenital Contractural Arachnodactyly
Aortic aneurysm, Slender build, Mitral valve prolapse ORPHA:115
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... ORPHA:2526
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Telecanthus, Ventricular septal defect, Microcephaly, Synophrys, Ventricular septal hypertrophy, ... OMIM:608670
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Retina... ORPHA:509
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Fibromuscular Dysplasia, Multifocal
Pes planus, Micrognathia, Pectus excavatum, Deeply set eye, Narrow nose OMIM:619329
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Flexion contracture, Low... OMIM:263650
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Spondyloocular Syndrome
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Distal Deletion 6P
Atrial septal defect, Epicanthus, Downslanted palpebral fissures ORPHA:96125
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Epicanthus, Progressive flexion contractures, Abnormal location of the eyebrow, Almond-shaped pal... ORPHA:522077
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... OMIM:188400
Microphthalmia, Syndromic 1
Prominent fingertip pads, Syndactyly, Abnormal pinna morphology, Bicuspid aortic valve, Down-slop... OMIM:309800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:258450
Ctcf-Related Neurodevelopmental Disorder
Epicanthus, Small for gestational age, Highly arched eyebrow, Microcephaly, Patent ductus arterio... ORPHA:363611
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Pectus excavatum OMIM:251750
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Micrognathia, Pectus excavatum, Conductive hearing impairment, Pulmonary arterial h... ORPHA:2785
Oculodentodigital Dysplasia
Epicanthus, Microcephaly, Blepharophimosis, Joint contracture of the 5th finger, Atrial septal de... OMIM:164200
Kabuki Syndrome 1
Hemolytic anemia, Ventricular septal defect, Highly arched eyebrow, Autoimmune thrombocytopenia, ... OMIM:147920
Leigh Syndrome
Failure to thrive, Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic... ORPHA:506
Multiple Endocrine Neoplasia, Type Iib
Pectus excavatum, Myopathy, Pes cavus, Proximal femoral epiphysiolysis OMIM:162300
Clapo Syndrome
Pectus excavatum, Hemihypertrophy of lower limb, Narrow chest, Macrodactyly ORPHA:168984
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Highly arched eyebrow, Microcephaly, Patent ductus arteriosus, Synophr... ORPHA:444077
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... OMIM:614816
Hepatoerythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Hajdu-Cheney Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Long eye... OMIM:102500
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Alopecia, Abnormality of the endocrine system, Myocardi... ORPHA:3385
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Trichothiodystrophy
Epicanthus, Multiple joint contractures, Ventricular septal defect, Microcephaly, Increased mean ... ORPHA:33364
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Congenital diaphragmatic ... OMIM:601803
Cerebrocostomandibular Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Elbow flexion cont... OMIM:117650
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Abnormality of the spleen, Atrial septal defect, T... ORPHA:2538
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Diets-Jongmans Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Breech presentation, ... OMIM:618846
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in infancy, Splenomegaly, Increased head circumference, Death in childhood, A... OMIM:612301
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Premature co... OMIM:615947
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Overweight, Macrocephaly, Failure to thrive, Peripheral pulmonary arte... OMIM:619575
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl... OMIM:613471
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hepatic failure, Rhabd... ORPHA:466650
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microcephaly,... OMIM:154400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Trichiasis, Patent ductu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Trichiasis, Patent ductu... ORPHA:353277
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Dilatation of the... ORPHA:459070
Prader-Willi Syndrome Due To Translocation
Microcephaly, Almond-shaped palpebral fissure, Patent ductus arteriosus, Obesity, Abnormal heart ... ORPHA:177907
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Fraser Syndrome
Hypoplasia of penis, Cleft ala nasi, Small scrotum, Conductive hearing impairment, Low-set, poste... ORPHA:2052
Inhalational Anthrax
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
Congenital Erythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Cornelia De Lange Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Curly eyelashes, Highly... OMIM:122470
Renal Tubular Dysgenesis
Hypotension, Microcephaly OMIM:267430
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Autosomal Dominant Hypocalcemia
Alopecia, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia,... ORPHA:428
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Ankylobleph... ORPHA:1071
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Hypotension, Limb hypertonia OMIM:608643
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Absence of stomach bubble on fet... ORPHA:1199
Aspartylglucosaminuria
Hepatomegaly, Pes planus, Macroorchidism, Abnormal morphology of ulna, Hypertelorism, Splenomegal... ORPHA:93
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Preductal coarctation of the aorta, Neonatal... OMIM:146510
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Telecanthus, Small for gestational age, Facial hypotonia, Lacrimal ... ORPHA:506358
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Almond-shaped palpebral fissure, Patent ductus ... ORPHA:438213
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesen... ORPHA:707
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic v... OMIM:619475
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
Neurooculorenal Syndrome
Dextrocardia, Anhydramnios, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis, P... OMIM:620305
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, R... ORPHA:3310
Legius Syndrome
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Pulmonic stenosis... ORPHA:137605
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Penile Agenesis
Atrial septal defect, Fetal pyelectasis, Ventricular septal defect, Oligohydramnios ORPHA:49
Orofaciodigital Syndrome Xiv
Telecanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebr... OMIM:615948
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Obesity, Mitral valve prolapse, Macrocephaly, Failure to thrive ORPHA:369950
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Holoprosencephaly 1
Hypoglycemia, Short stature, Adrenal hypoplasia, Microcephaly, Hypotelorism, Cyclopia, Diabetes i... OMIM:236100
Poland Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Abnormalit... ORPHA:2911
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Hydrops fetalis ORPHA:93271
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93924
Apert Syndrome
Downslanted palpebral fissures, Overriding aorta, Ventricular septal defect, Shallow orbits OMIM:101200
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Upslante... ORPHA:1724
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Epicanthus, Failure to thrive in infancy, Transient ischemic attack, Spars... ORPHA:500150
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia OMIM:174000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Microcephaly, Right aortic arch, Lower-limb joint contracture, Failure... ORPHA:513456
Coffin-Siris Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosu... OMIM:135900
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Meester-Loeys Syndrome
Relative macrocephaly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the... OMIM:300989
Chromosome 13Q14 Deletion Syndrome
Epicanthus, Ventricular septal defect, Patent foramen ovale OMIM:613884
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Orofaciodigital Syndrome Type 14
Telecanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebr... ORPHA:434179
Townes-Brocks Syndrome
Failure to thrive, Abnormal pulmonary valve morphology, Blepharophimosis, Limbal dermoid, Patent ... ORPHA:857
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, Na... OMIM:620330
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
1-minute APGAR score of 1, Cyst of the ductus choledochus, Patent ductus arteriosus, 5-minute APG... ORPHA:480880
Early Infantile Epileptic Encephalopathy
Failure to thrive, Ventricular septal defect, Microcephaly ORPHA:1934
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia OMIM:619482
Pallister-Hall Syndrome
Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Coarctation of ao... ORPHA:672
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Mitral valve prolapse OMIM:166200
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Hydromyelia, Neonatal death, Atrial septal defect, Corneal neovascularization, Olig... OMIM:308205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Telecanthus, Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular ... ORPHA:99646
Floating-Harbor Syndrome
Small for gestational age, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesoc... ORPHA:2044
Townes-Brocks Syndrome 1
Ventricular septal defect, Small for gestational age, Microcephaly, Atrial septal defect, Tetralo... OMIM:107480
Floating-Harbor Syndrome
Coarctation of aorta, Long eyelashes, Atrial septal defect, Mesocardia, Persistent left superior ... OMIM:136140
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Stickler Syndrome
Cachexia, Mitral valve prolapse, Arrhythmia, Short nose, Slender build ORPHA:828
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Microcephaly OMIM:259770
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Aortic ro... ORPHA:287
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Blepharophimosis, Patent ductus arte... OMIM:164210
Metachondromatosis
Abnormal metaphysis morphology, Abnormal epiphysis morphology ORPHA:2499
Metachondromatosis
Bowing of the long bones OMIM:156250
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ptpn11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptpn11.

No publications found that use IMPC mice or data for Ptpn11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptpn11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptpn11tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptpn11tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptpn11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ptpn11tm40187(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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