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Gene: Ncor2 MGI:1337080

Gene Summary

Name:

nuclear receptor co-repressor 2

Synonyms:

SMRT, SMRTe

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail movements	Ncor2^Ncor2	HOM	Early adult	3.46×10^-05
preweaning lethality, complete penetrance	Ncor2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal blood vessel morphology	Ncor2^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Ncor2^em1(IMPC)Mbp	HOM	E15.5	0.00
increased startle reflex	Ncor2^Ncor2	HOM	Early adult	1.32×10^-11
increased lean body mass	Ncor2^Ncor2	HOM	Early adult	5.12×10^-05
abnormal placenta vasculature	Ncor2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Ncor2^em1(IMPC)Mbp	HET	E15.5	0.00
persistence of hyaloid vascular system	Ncor2^em1(IMPC)Mbp	HET	Early adult	4.65×10^-06
abnormal placenta morphology	Ncor2^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Ncor2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Ncor2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal tail movements	Ncor2^Ncor2	HET	Early adult	1.70×10^-05
abnormal blood vessel morphology	Ncor2^em1(IMPC)Mbp	HOM	E15.5	0.00
increased prepulse inhibition	Ncor2^Ncor2	HET	Early adult	1.32×10^-06
long tibia	Ncor2^Ncor2	HET	Early adult	1.53×10^-06
abnormal retina morphology	Ncor2^em1(IMPC)Mbp	HET	Early adult	4.97×10^-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Gross Morphology Embryo E14.5-E15.5

Images

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Ncor2 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.

Human diseases associated with Ncor2 (0 diseases)
Human diseases predicted to be associated with Ncor2 (1198 diseases)

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

The table below shows human diseases predicted to be associated to Ncor2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Abnormal bone marrow c...	ORPHA:3318
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Myelofibrosis	Myelofibrosis, Splenomegaly, Fever, Myeloproliferative disorder	OMIM:254450
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive prote...	ORPHA:160
Thrombocytopenia 6	Myelofibrosis, Bone marrow hypercellularity, Osteoporosis, Thrombocytopenia	OMIM:616937
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
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
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Dilated card...	ORPHA:3260
Multiple Symmetric Lipomatosis	Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp...	ORPHA:2398
Idiopathic Congenital Hypothyroidism	Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu...	ORPHA:95717
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc...	OMIM:612526
Primary Myelofibrosis	Fever, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Bone marrow hypercellularity, Ca...	ORPHA:824
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Coloboma Of Macula	Macular coloboma	OMIM:120300
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem...	ORPHA:528
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy...	ORPHA:95716
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Increased int...	ORPHA:280365
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thy...	ORPHA:226313
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista...	ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp...	OMIM:615381
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low...	ORPHA:93356
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Joint laxity, Myelofibrosis, Inguinal hernia, Ventricular septal defect, Large for gestational ag...	OMIM:607721
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Lymphangioma...	OMIM:176920
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac...	OMIM:615238
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Mu-Heavy Chain Disease	Fever, Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, ...	ORPHA:100024
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy, Lymphocytosis	ORPHA:79087
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly	ORPHA:2204
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol...	ORPHA:329249
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina...	OMIM:613327
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo...	OMIM:259720
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Portal hypertension, Hypothermia, Elevated circulating alpha-fetoprot...	OMIM:251880
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Insulin resistance, Flexion contracture, Osteoporosis, Elbow flexion c...	OMIM:214150
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin, Obesity	OMIM:614962
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast...	ORPHA:276575
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper...	ORPHA:79083
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal obesity, Hypog...	ORPHA:73272
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ...	OMIM:617021
Menkes Disease	Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis, Hypothermia	OMIM:309400
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Ventricular Septal Defect 3	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Dela...	ORPHA:90673
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Congenital Enterovirus Infection	Fever, Abnormal macrophage morphology, Fetal ascites, Hypothermia, Pericardial effusion, Myocardi...	ORPHA:292
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip...	ORPHA:2348
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy...	ORPHA:90674
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia	OMIM:615026
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hypothermia, Hyperglycinemia, Failure to thrive, Hypertaurinemia	OMIM:245400
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Hereditary Spherocytosis	Fever, Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis,...	ORPHA:822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Hepatomegaly, Small for gestational age, Ventricular septal defect, Hypothermia,...	ORPHA:26793
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Timothy Syndrome	Hypoglycemia, Ventricular septal defect, Hypothermia, Cardiomegaly, Hypothyroidism, Hypocalcemia,...	OMIM:601005
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cyanosis, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammon...	ORPHA:159
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
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
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogona...	ORPHA:465508
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Fever, Hypothermia, Leukocytosis, Jaun...	ORPHA:20
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Decreased calvarial ossification, C...	ORPHA:313855
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa...	ORPHA:172
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine ...	ORPHA:230
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Ventricular septal defect, Hypothermia, Elevated circulating creatine ...	OMIM:618775
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Schnitzler Syndrome	Fever, Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy,...	ORPHA:37748
Whipple Disease	Fever, Hepatomegaly, Pericarditis, Hyponatremia, Cachexia, Splenomegaly, Mediastinal lymphadenopa...	ORPHA:3452
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Beta-Thalassemia	Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemo...	ORPHA:848
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Red...	OMIM:619795
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi...	OMIM:600785
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Werner Syndrome	Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Insulin resistance, ...	ORPHA:902
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:264700
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Hypothermia	OMIM:614654
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu...	OMIM:241530
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria	ORPHA:83473
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Ventricular septal defect	OMIM:616816
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:277440
Caffey Disease	Fever, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, C...	ORPHA:1310
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi...	ORPHA:35878
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Osteolysis, Generalized lipodystrophy, Osteolytic...	ORPHA:90154
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Failure...	ORPHA:79301
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene...	ORPHA:166277
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Immunodeficiency 69	Fever, Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, He...	OMIM:618963
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Hemophagocytic Lymphohistiocytosis, Familial, 4	Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin...	OMIM:603552
Alexander Disease	Osteopenia, Diabetes mellitus, Hypothermia, Precocious puberty, Failure to thrive, Hypothyroidism	ORPHA:58
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-...	OMIM:248370
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Majeed Syndrome	Fever, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplas...	ORPHA:77297
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit...	OMIM:608594
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Joint stiffness, Splenomegaly, Reduced bone mineral dens...	OMIM:620210
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Menkes Disease	Inguinal hernia, Osteomyelitis, Hypoglycemia, Tarsal synostosis, Recurrent fractures, Hypothermia...	ORPHA:565
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Lateral ventricle dilatation, Patent ductus arteriosus, Ventricular septal ...	OMIM:618330
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Short Syndrome	Joint laxity, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin-res...	OMIM:269880
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia	OMIM:614498
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoalbumin...	OMIM:618329
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Ventricular septal defect, Decreased response to growth hormone stimulation test...	ORPHA:488632
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy, Reduced ...	OMIM:619322
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Osteoporosis, Abnormal bone mar...	ORPHA:87876
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Megaloblastic anemia, Jaund...	ORPHA:79282
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age, Abnormal heart morphology	ORPHA:439167
Classic Hodgkin Lymphoma	Fever, Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocell...	ORPHA:391
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:151660
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Delay...	ORPHA:91
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Atrial septal def...	ORPHA:769
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Abnormal number of granulocyte precursors, Le...	ORPHA:99826
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Delpire-Mcneill Syndrome	Agenesis of corpus callosum, Ventricular septal defect	OMIM:619083
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Immunodeficiency 27A	Fever, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mes...	OMIM:209950
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Hypothermia	OMIM:616501
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi...	ORPHA:797
Alpha-Mannosidosis	Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Splenomegaly, Arthritis, Type II diabet...	ORPHA:61
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Felty Syndrome	Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Celluli...	ORPHA:47612
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Abnormal circulating lipid concentration, Insulin resistance,...	OMIM:616541
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Lymphangioma, Osteolysis involving bones of the upper limbs, Osteolysi...	ORPHA:73
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Craniosynostosis, Abnormal heart morphology, Camptodactyly of toe, Umbilical her...	OMIM:175700
Lymphoproliferative Syndrome, X-Linked, 2	Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased...	OMIM:300635
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva...	OMIM:617253
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Periventricular hetero...	OMIM:618974
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Limitation of joint mobility, Osteolysis, Hyperlipidemia...	ORPHA:90153
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Fever, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin conce...	OMIM:613101
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Small for gestation...	ORPHA:2909
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hypocalcemic seizures, Osteopetr...	OMIM:612301
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,...	OMIM:246200
Autoinflammation With Infantile Enterocolitis	Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increas...	OMIM:616050
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Hypothermia, ...	ORPHA:198
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Cinca Syndrome	Fever, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentr...	ORPHA:1451
Meningococcal Meningitis	Fever, Elevated circulating C-reactive protein concentration, Stiff neck, Hypothermia	ORPHA:33475
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Paraparesis, Flexion contractu...	ORPHA:333
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thro...	OMIM:259700
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,...	ORPHA:438213
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa...	ORPHA:98849
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Aplastic ...	ORPHA:221008
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim...	ORPHA:2796
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym...	OMIM:256550
Gamma-Heavy Chain Disease	Fever, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thro...	ORPHA:100026
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac...	OMIM:618493
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Ri...	ORPHA:2088
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hypothermia, Patent foramen ovale, Flexion co...	ORPHA:17
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Neuroleptic Malignant Syndrome	Fever, Hyponatremia, Elevated circulating creatine kinase concentration, Hypothermia, Leukocytosi...	ORPHA:94093
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Hypophosphatemia, Sp...	OMIM:300009
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Immunodeficiency 32B	Fever, Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Granulocytic hyp...	OMIM:226990
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Fever, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv...	ORPHA:158057
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Paraparesis, Hyperammonemia, Anemia, Leukopenia, Cardiomyopathy,...	ORPHA:27
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration	ORPHA:2772
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le...	ORPHA:507
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density, Ascites	ORPHA:834
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Aplastic ...	ORPHA:221016
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri...	OMIM:618142
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weig...	OMIM:614886
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures	ORPHA:1486
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase co...	ORPHA:79240
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Sagittal ...	OMIM:610199
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Multiple joint contractures, Hypergonadotropic hypogonadism...	ORPHA:2959
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony...	OMIM:230600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Temperature instability, Abno...	ORPHA:391673
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abnormal mitral v...	ORPHA:740
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Orthostatic Hypotension 1	Intermittent hypothermia, Joint hypermobility, Reduced circulating prolactin concentration, Hypom...	OMIM:223360
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Hyponatremia, Cyanosis, Decreased response to growth hormone stimulation test, Central dia...	ORPHA:293987
Fibrous Dysplasia Of Bone	Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated cir...	ORPHA:249
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Kapur-Toriello Syndrome	Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Tetralogy of Fal...	ORPHA:2328
Tarp Syndrome	Extramedullary hematopoiesis, Cyanosis, Tetralogy of Fallot, Atrial septal defect, Failure to thrive	ORPHA:2886
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Caffey Disease	Fever, Joint hypermobility, Periosteal thickening of long tubular bones, Subperiosteal bone forma...	OMIM:114000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Elevated cir...	OMIM:612852
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
X-Linked Lissencephaly With Abnormal Genitalia	Agenesis of corpus callosum, Patent ductus arteriosus, Pachygyria, Ventricular septal defect	ORPHA:452
Immunodeficiency 31C	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem...	OMIM:614162
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo...	ORPHA:125
Gitelman Syndrome	Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Hashimoto thyroidit...	ORPHA:358
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Rett Syndrome	Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris...	ORPHA:778
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic chole...	OMIM:227810
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Immunodeficiency 97 With Autoinflammation	Fever, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regul...	OMIM:619802
Dent Disease	Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c...	ORPHA:1652
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy...	ORPHA:2484
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Kaposiform Lymphangiomatosis	Fever, Pancreatic cysts, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Abnormality...	ORPHA:464329
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h...	ORPHA:79319
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Paraparesis, Osteolysis, Increased susceptibility to ...	OMIM:602080
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v...	ORPHA:199276
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Hemophagocytic Lymphohistiocytosis, Familial, 2	Fever, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Jaundice, In...	OMIM:603553
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polymicrogyria, Ventricular septal defect	OMIM:602501
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Umbi...	OMIM:252900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th...	OMIM:218700
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a...	OMIM:271665
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Secundum a...	OMIM:609069
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Lateral ventricle dil...	OMIM:617751
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni...	OMIM:278000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra...	OMIM:618398
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, O...	ORPHA:77293
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hepatomegaly, Hypothermia, Dilated cardiomyopathy, Low plasma citrulline, Hyperalaninemia,...	ORPHA:255210
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Macrophage Activation Syndrome	Fever, Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration,...	ORPHA:158061
Adult-Onset Still Disease	Fever, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulatin...	ORPHA:829
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the ga...	ORPHA:171
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Wolman Disease	Fever, Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adren...	ORPHA:75233
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, He...	ORPHA:79474
Deafness-Lymphedema-Leukemia Syndrome	Fever, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weigh...	ORPHA:3226
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Dense c...	OMIM:252920
Pediatric-Onset Graves Disease	Hepatomegaly, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with ...	ORPHA:525731
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Tyrosinemia, Type I	Fever, Hepatomegaly, Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ...	ORPHA:355
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Fever, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein c...	OMIM:615688
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ventricular septal ...	OMIM:617201
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum, Ventricular septal defect	ORPHA:93267
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,...	ORPHA:79243
Ethylene Glycol Poisoning	Cyanosis, Hyperkalemia, Hypocalcemia, Hypothermia	ORPHA:31826
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Mixed Connective Tissue Disease	Fever, Hemolytic anemia, Hepatomegaly, Pericarditis, Joint stiffness, Splenomegaly, Mediastinal l...	ORPHA:809
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Griscelli Syndrome Type 2	Fever, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemop...	ORPHA:79477
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Omenn Syndrome	Fever, Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Ly...	ORPHA:39041
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Oculodentodigital Dysplasia	Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Ventricular septal defe...	ORPHA:2710
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp...	OMIM:618619
Thalidomide Embryopathy	Radial club hand, Insulin resistance	ORPHA:3312
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Limb joint contracture, Small for gestational age, Decreased resting energy expendi...	ORPHA:404454
Beta-Ketothiolase Deficiency	Fever, Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thro...	ORPHA:134
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ...	ORPHA:77261
Joubert Syndrome 18	Agenesis of corpus callosum, Ventricular septal defect	OMIM:614815
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:49827
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:610338
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Umbilical hernia, Generalized osteoporosis, ...	OMIM:617952
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat...	OMIM:277900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Pancreat...	OMIM:232220
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Dense calvaria	OMIM:252930
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
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Thrombocytopenia, Splenomegaly, Increased circu...	OMIM:222700
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, F...	OMIM:617591
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Splenomegaly, M...	OMIM:606003
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Pachygyria, Ventricular septal defect, Polymicrogyria	OMIM:603387
Craniofacial Dyssynostosis With Short Stature	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Flexion contracture, Hypothermia	ORPHA:99027
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis	Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin...	ORPHA:540
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Simplified gyral pattern, Atrial septal defect, Patent foramen ovale, ...	OMIM:614261
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Hypothermia, Corneal scarring, Painless fractures due to injur...	ORPHA:642
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Woods Syndrome	Ventricular septal defect	OMIM:615236
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa...	OMIM:602579
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Hyperostosis, Subcutaneou...	ORPHA:2969
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism,...	ORPHA:90065
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Sepsis In Premature Infants	Fever, Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein...	ORPHA:90051
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial...	ORPHA:1328
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Stüve-Wiedemann Syndrome	Osteopenia, Recurrent fractures, Camptodactyly of finger, Flexion contracture, Osteoporosis, Limi...	ORPHA:3206
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anem...	ORPHA:440713
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of neuronal migration, A...	ORPHA:7
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym...	OMIM:615895
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,...	OMIM:263700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Polymicrogyria, Paten...	OMIM:618494
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast...	ORPHA:392
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Lissencephaly 9 With Complex Brainstem Malformation	Pachygyria, Ventricular septal defect, Lissencephaly	OMIM:618325
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Paraparesis, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope...	ORPHA:37042
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of ...	OMIM:619103
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:601927
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,...	ORPHA:71212
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Patent foramen ovale, Colpocephaly, Atrial septal defect, Agenesis of ...	OMIM:609053
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Atrial septal d...	OMIM:618870
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Recurrent fractures, Abnormality of ne...	ORPHA:1775
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Alpers-Huttenlocher Syndrome	Paraparesis, Spastic paraparesis	ORPHA:726
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Hypoargininemia, Paraparesis, Low plasma citrulline, Hyperammonemia, Hyperprol...	OMIM:620358
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventricular septal defect	OMIM:219730
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys...	OMIM:619183
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormality of temperature regulation, Recurrent fractures, Craniosynostosis, Abnor...	ORPHA:667
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Mucopolysaccharidosis Type 7	Inguinal hernia, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Umbilical hernia...	ORPHA:584
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fist...	OMIM:620024
Spinal Arteriovenous Metameric Syndrome	Lymphangioma, Cutaneous angiolipomas, Paraparesis	ORPHA:53721
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis	ORPHA:231445
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sarcoidosis, Susceptibility To, 1	Fever, Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegal...	OMIM:181000
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Primary Angiitis Of The Central Nervous System	Fever, Paraparesis	ORPHA:140989
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Lissencephaly	OMIM:612938
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Paraparesis, Achilles tendon contracture	OMIM:302800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fever, Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal ja...	OMIM:300908
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi...	OMIM:613027
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Hemophagocytic Syndrome Associated With An Infection	Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferr...	ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Sp...	OMIM:619525
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis	OMIM:302802
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis	ORPHA:101005
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog...	ORPHA:2658
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Agenesis of corp...	OMIM:264480
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal...	ORPHA:185
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Inguinal hernia, Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secun...	OMIM:612541
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Familial Osteodysplasia, Anderson Type	Hyperuricemia, Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility t...	ORPHA:2769
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Lissencephaly, Right ventricular hypertrophy	OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Severe X-Linked Intellectual Disability, Gustavson Type	Lateral ventricle dilatation, Ventricular septal defect	ORPHA:3078
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve...	OMIM:619657
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anomalous pulmonary v...	OMIM:617478
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
X-Linked Charcot-Marie-Tooth Disease Type 5	Paraparesis	ORPHA:99014
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Osteogenesis Imperfecta	Osteopenia, Abnormal endocardium morphology, Inguinal hernia, Small for gestational age, Recurren...	ORPHA:666
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Patent ...	OMIM:620113
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Lissencephaly, Atrial septal defect, Patent foramen ovale, Right ventr...	OMIM:208085
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Q Fever	Fever, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial ef...	ORPHA:781
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:612582
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Prune Belly Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2970
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica...	OMIM:613848
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated ...	ORPHA:3261
Caroli Disease	Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjuga...	ORPHA:53035
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Kapur-Toriello Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pachygyria, Polymicrog...	OMIM:244300
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hereditary Elliptocytosis	Fever, Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice...	ORPHA:288
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal cortical gyra...	OMIM:614576
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Chronic Myeloid Leukemia	Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ...	ORPHA:521
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	ORPHA:3426
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive	OMIM:616881
X-Linked Adrenoleukodystrophy	Paraparesis, Progressive spastic paraparesis, Increased circulating ACTH level, Adrenal insuffici...	ORPHA:43
Frontotemporal Dementia With Motor Neuron Disease	Paraparesis	ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Paraparesis	OMIM:105550
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic...	OMIM:600001
Myopathy With Extrapyramidal Signs	Perisylvian polymicrogyria, Ventricular septal defect	OMIM:615673
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Lateral ventricle di...	ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Cerebrotendinous Xanthomatosis	Osteopenia, Paraparesis, Osteoporosis, Abnormal atrial septum morphology, Increased susceptibilit...	ORPHA:909
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Intellectual Developmental Disorder, Autosomal Dominant 56	Paraparesis	OMIM:617854
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Abnormal heart morphology, Lower-limb ...	ORPHA:99885
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M...	OMIM:306955
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum...	ORPHA:3008
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Paraparesis, Spastic paraparesis	OMIM:615157
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Ventricular septal defect	OMIM:619312
Methimazole Embryofetopathy	Ventricular septal defect	ORPHA:1923
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Neonatal death, Pul...	OMIM:601186
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
16P13.11 Microdeletion Syndrome	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Abnormality of neur...	ORPHA:261236
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Hypoma...	OMIM:219800
Frank-Ter Haar Syndrome	Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Osteoporosis, Mitral valve ...	OMIM:249420
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Scarring, Splenomegaly, Scarring alopecia of scalp, Abnormal circul...	ORPHA:95159
16Q24.3 Microdeletion Syndrome	Colpocephaly, Dilated cardiomyopathy, Ventricular septal defect, Periventricular heterotopia	ORPHA:261250
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Weill-Marchesani Syndrome 1	Ventricular septal defect, Joint stiffness, Pulmonic stenosis, Aortic valve stenosis, Thin bony c...	OMIM:277600
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Ventricular septal defect	OMIM:301039
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Atrial septal defect, Small for gestational age, Bicuspid aortic v...	ORPHA:84064
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Spondyloocular Syndrome	Osteopenia, Mitral valve prolapse, Decreased body weight, Atrial septal defect, Thin bony cortex,...	OMIM:605822
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Simplified gyral pattern	OMIM:616777
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:615453
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1926
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Subvalvular aortic ...	OMIM:613001
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Cranial hyperostosis	OMIM:612918
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly, Hyperostosis	ORPHA:53715
Adrenoleukodystrophy	Hypogonadism, Paraparesis, Elevated circulating long chain fatty acid concentration, Primary adre...	OMIM:300100
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Agenesis of corpus callosum, Ventricular septal defect	OMIM:620073
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Umbilical hernia, Abnorm...	ORPHA:93
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Oculodentodigital Dysplasia	Paraparesis, Joint contracture of the 5th finger, Atrial septal defect, Enamel hypoplasia, Verteb...	OMIM:164200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Weill-Marchesani Syndrome 2	Ventricular septal defect, Joint stiffness, Elbow flexion contracture, Pulmonic stenosis, Umbilic...	OMIM:608328
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Rift Valley Fever	Fever, Paraparesis, Jaundice, Periodic fever, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Kagami-Ogata Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Ventricular septal defect	OMIM:234050
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
3P25.3 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Agenesis of corpus callosum, Double outlet right ventricle, Ventricular septal defect, Pulmonic s...	OMIM:301056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Trisomy 1Q	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	ORPHA:261344
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Codas Syndrome	Ventricular septal defect	ORPHA:1458
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Holoprosencephaly 14	Ventricular septal defect, Periventricular heterotopia, Partial agenesis of the corpus callosum, ...	OMIM:619895
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive	OMIM:617864
Thakker-Donnai Syndrome	Agenesis of corpus callosum, Tetralogy of Fallot, Ventricular septal defect, Transposition of the...	ORPHA:1780
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Partial agenesis of the corpus cal...	OMIM:117550
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do...	ORPHA:371428
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ...	OMIM:612562
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulm...	OMIM:616564
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect	OMIM:617360
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect	OMIM:616449
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Poliomyelitis	Fever, Paraparesis, Stiff neck, Absent tonsils	ORPHA:2912
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Donnai-Barrow Syndrome	Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Ventricular septal defect	OMIM:222448
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect	OMIM:309520
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi...	OMIM:605275
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Paraparesis, ...	ORPHA:449427
Bohring-Opitz Syndrome	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Gray matter heterot...	OMIM:605039
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septa...	OMIM:601808
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Granulomatous Disease, Chronic, X-Linked	Fever, Hepatomegaly, Osteomyelitis, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, ...	OMIM:306400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect	ORPHA:369929
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Agenesis of corpus callosum, Colpocephaly, H...	OMIM:301043
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Agenesis of corpus callosum, Hypoplastic left heart, Tetralogy of Fall...	OMIM:618748
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:254346
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirub...	OMIM:619534
Mosaic Trisomy 1	Agenesis of corpus callosum, Lateral ventricle dilatation, Polymicrogyria, Ventricular septal defect	ORPHA:1692
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Pachygyria, Agenesis o...	OMIM:613457
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Fever, Paraparesis	OMIM:607483
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Hypoplastic left heart, Pulmonic st...	OMIM:100300
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Faciocardiomelic Syndrome	Osteopenia, Common atrium, Thin bony cortex, Large for gestational age	OMIM:612731
Zellweger Syndrome	Polymicrogyria, Ventricular septal defect	ORPHA:912
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gray matter heterotop...	OMIM:610443
Heart And Brain Malformation Syndrome	Ventricular septal defect	OMIM:616920
Phaver Syndrome	Ventricular septal defect	ORPHA:2876
Gm1 Gangliosidosis	Cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:354
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300963
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system	OMIM:620185
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o...	ORPHA:2008
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Macrogyria, Colpocephaly, Atrial septal defect, Pachygyria, Agenesis o...	OMIM:614866
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Gray matter heteroto...	ORPHA:453499
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Colpocephaly, Atrial septal defect, Agenesis of corp...	OMIM:309801
Ogden Syndrome	Ventricular septal defect	ORPHA:276432
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Patent ductus arteriosu...	ORPHA:99776
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Patent foramen ovale, Abnormal cardiac septum morphology, Atrial septa...	ORPHA:209905
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Atrial septal defe...	OMIM:235510
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir...	ORPHA:637
Kleefstra Syndrome	Agenesis of corpus callosum, Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve	ORPHA:261494
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Hyper...	OMIM:124000
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia	OMIM:614294
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Hypoplastic left hear...	ORPHA:99050
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Joubert Syndrome 14	Ventricular septal defect	OMIM:614424
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Lateral ventricle dilatation, Pachygyria, Ventricular septal defect	OMIM:263520
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventricular sept...	ORPHA:464738
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect	OMIM:300514
Recombinant 8 Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:96167
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Simplified gyral pattern, Abnormal heart mor...	ORPHA:1465
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Goldberg-Shprintzen Syndrome	Pachygyria, Ventricular septal defect, Polymicrogyria	OMIM:609460
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect	ORPHA:166035
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Ventricular septal defect	OMIM:214100
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive	OMIM:615574
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Abnormal cortical gyration, Pachygyria, Muscular ventricular septal de...	OMIM:210710
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Ventricular septal defect, Thin bony cortex	OMIM:619727
Kufor-Rakeb Syndrome	Paraparesis	OMIM:606693
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:614114
Scorpion Envenomation	Fever, Acute pancreatitis, Increased circulating NT-proBNP concentration, Myocarditis, Increased ...	ORPHA:466677
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventricular septal defect	OMIM:619229
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Ventricular septal defect	OMIM:300998
Alagille Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:52
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:617602
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Bicuspid aortic valve, Mitral atresia, ...	OMIM:220111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosu...	OMIM:265380
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu...	ORPHA:3384
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e...	ORPHA:35706
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive	OMIM:617527
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Opitz Gbbb Syndrome	Agenesis of corpus callosum, Ventricular septal defect	OMIM:300000
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti...	OMIM:300967
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ...	ORPHA:444077
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Arachnoid Cyst	Abnormality of the endocrine system, Paraparesis	ORPHA:2356
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Paraparesis, Obesity	ORPHA:2822
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum, Ventricular septal defect	ORPHA:268249
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Ventricular septal defect, Polymicrogyria, Patent foramen ovale	OMIM:618454
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Opitz Gbbb Syndrome	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphol...	ORPHA:2745
Leigh Syndrome	Agenesis of corpus callosum, Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect	OMIM:235255
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia	ORPHA:93598
Short-Rib Thoracic Dysplasia 12	Neonatal death, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:269860
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ...	ORPHA:508498
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Hydrolethalus Syndrome 1	Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricular canal defect, Gr...	OMIM:236680
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macrogyria, Atrial septal defect, Pachygyria...	OMIM:602535
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect	OMIM:243150
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect	OMIM:611812
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pat...	OMIM:617506
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Patent ductus arteriosus, Simplified gyral pattern, Atrial septal defe...	ORPHA:96121
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Gray matter heteroto...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Gray matter heteroto...	ORPHA:352665
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Robinow Syndrome, Autosomal Dominant 3	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart	OMIM:616894
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Mosaic Trisomy 16	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Mitral stenos...	ORPHA:163956
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Abnormality of neuron...	ORPHA:464311
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615582
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Ventricular septal defect	OMIM:619575
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th...	ORPHA:2461
Acute Transverse Myelitis	Fever, Abnormality of temperature regulation, Decreased circulating copper concentration, Abscess...	ORPHA:139417
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil...	ORPHA:79328
Trichothiodystrophy	Cardiomyopathy, Partial agenesis of the corpus callosum, Ventricular septal defect	ORPHA:33364
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Periventricular heterotopia, Partial agenesis of the corpus callosum, ...	OMIM:615948
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Stillbirth, Lissenceph...	OMIM:256520
Jacobsen Syndrome	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Pachygyria, Agenesis of...	ORPHA:2308
Apert Syndrome	Agenesis of corpus callosum, Overriding aorta, Ventricular septal defect	OMIM:101200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Focal Dermal Hypoplasia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:2092
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Ventricu...	OMIM:300373
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:607323
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Abnormal left ve...	ORPHA:466791
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300712
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect	ORPHA:261330
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Bilateral Perisylvian Polymicrogyria	Paraparesis, Ectopic posterior pituitary, Flexion contracture, Distal arthrogryposis	ORPHA:98889
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
De Barsy Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:2962
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality ...	ORPHA:2162
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:618268
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo...	ORPHA:1507
Trisomy 18	Atrial septal defect, Ventricular septal defect	ORPHA:3380
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:222470
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Paten...	OMIM:607872
Fryns Syndrome	Atrial septal defect, Agenesis of corpus callosum, Stillbirth, Ventricular septal defect	OMIM:229850
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363958
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Polymicrogyria	OMIM:154400
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Partial agenesis of the corpus callosum, Ventricular septal defect, Per...	ORPHA:434179
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Ventricular septal defect, Patent foramen ovale	OMIM:613884
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:163979
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:147791
Fanconi Anemia, Complementation Group C	Ventricular septal defect	OMIM:227645
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub...	OMIM:280000
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect	ORPHA:464306
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrioventricular canal...	OMIM:274000
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Periventricular heterotopia, Partial agenesis of the corpus callosum, ...	OMIM:270400
Neuroocular Syndrome	Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Feingold Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Genitopatellar Syndrome	Ventricular septal defect, Periventricular heterotopia, Colpocephaly, Atrial septal defect, Pachy...	OMIM:606170
Zttk Syndrome	Atrial septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Ventricular septal de...	OMIM:617140
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:139210
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnorma...	ORPHA:567
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Agenesis of corpus ca...	OMIM:180849
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Cornelia De Lange Syndrome 1	Ventricular septal defect	OMIM:122470
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Pachygyria, Cardiomyopathy, Atrial septal defect, Tetral...	ORPHA:3472
Early Infantile Epileptic Encephalopathy	Pachygyria, Ventricular septal defect	ORPHA:1934
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Simpson-Golabi-Behmel Syndrome	Atrial septal defect, Cardiomyopathy, Agenesis of corpus callosum, Ventricular septal defect	ORPHA:373
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:818
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial...	OMIM:157800
Degcags Syndrome	Ventricular septal defect, Patent ductus arteriosus, Agenesis of corpus callosum, Pulmonic stenos...	OMIM:619488
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse	ORPHA:500095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Neurofibromatosis, Familial Spinal	Paraparesis	OMIM:162210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Abno...	ORPHA:508488
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Congenital Tracheal Stenosis	Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart	ORPHA:141127
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Patent d...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Patent d...	ORPHA:353277
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Diamond-Blackfan Anemia	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:124
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:117650
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Diamond-Blackfan Anemia 1	Atrial septal defect, Ventricular septal defect, Tricuspid stenosis	OMIM:105650
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window	OMIM:620025
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Pachygyria, Ventricular septal defect	ORPHA:513456
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:118450
Diets-Jongmans Syndrome	Ventricular septal defect	OMIM:618846
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve	OMIM:619475
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect	ORPHA:459070
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:163950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Lissencephaly	ORPHA:96334
Mowat-Wilson Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Pulmonic stenosis...	OMIM:235730
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Coffin-Siris Syndrome 1	Ventricular septal defect, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Atr...	OMIM:135900
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve...	OMIM:312870
Wolf-Hirschhorn Syndrome	Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect	OMIM:194190
Kabuki Syndrome 1	Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect	OMIM:147920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h...	OMIM:619503
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Split Cord Malformation	Lipoma, Paraparesis	ORPHA:573278
Keutel Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio...	OMIM:214800
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Patent ductus arteriosus, Mitral valve pro...	OMIM:619472
Peters-Plus Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Age...	OMIM:261540
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ...	OMIM:194050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Periventri...	ORPHA:261552
Digeorge Syndrome	Patent ductus arteriosus, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:672
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:199
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Patent ductus arteriosus, Stillbirth, Ventricular septal defect	OMIM:268300
Yunis-Varon Syndrome	Ventricular septal defect, Pachygyria, Cardiomyopathy, Agenesis of corpus callosum, Tetralogy of ...	OMIM:216340
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Sotos Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:821
Johanson-Blizzard Syndrome	Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:243800
Craniofacial Microsomia 1	Agenesis of corpus callosum, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal de...	OMIM:164210
Pallister-Killian Syndrome	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Aortic valve stenosis, Atrial se...	OMIM:601803

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 Ncor2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ncor2.

No publications found that use IMPC mice or data for Ncor2.

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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
Ncor2^em1(IMPC)Mbp	Exon Deletion	Mice
Ncor2^{tm96110(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ncor2 MGI:1337080

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Ncor2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data