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Gene: Asxl2 MGI:1922552

Gene Summary

Name:

ASXL transcriptional regulator 2

Synonyms:

4930556B16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.36×10^-06
abnormal retina morphology	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.30×10^-07
decreased mean corpuscular volume	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.85×10^-06
increased grip strength	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.41×10^-06
increased mean corpuscular hemoglobin concentration	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.92×10^-05
prolonged QRS complex duration	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.48×10^-05
preweaning lethality, incomplete penetrance	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating cholesterol level	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.49×10^-05

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Eye Morphology

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Immunophenotyping

Panel B FCS file(s)

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

Images

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Eye Morphology

Images Slit Lamp

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Human diseases caused by Asxl2 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 Asxl2 (1 diseases)
Human diseases predicted to be associated with Asxl2 (787 diseases)

The table below shows human diseases associated to Asxl2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Shashi-Pena Syndrome		Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Intrauterine growth retardation, Atrial sep...	OMIM:617190

The table below shows human diseases predicted to be associated to Asxl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short stature	ORPHA:93304
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Disproportionate short-trunk short stature, Abnormal vertebral morphology, Short s...	ORPHA:163665
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Short stature, Abnormal form of the vertebral bodies	ORPHA:93302
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Short stature	OMIM:617383
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Tetralogy ...	OMIM:250620
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Disp...	OMIM:609223
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Short stature, Irregular vertebral endplates, Platyspondyly, Schmorl...	OMIM:604864
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Brachyolmia Type 2	Platyspondyly, Short stature	OMIM:613678
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Vertebral wedging, Short stature, Platyspondyly	OMIM:616583
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Proportionate short stature	OMIM:608361
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Morquio Syndrome C	Platyspondyly, Severe short stature	OMIM:252300
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Postnatal growth retardation, Severe short stature	OMIM:618728
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely...	OMIM:613694
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Cardiomyopathy, Lethargy	ORPHA:26792
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Distal Myopathy, Tateyama Type	Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Epiphyseal Dysplasia, Multiple, 7	Vertebral wedging, Platyspondyly, Mild short stature	OMIM:617719
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Lethargy, Intrauterine growth retardation	OMIM:617065
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy	ORPHA:79283
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Dental Anomalies And Short Stature	Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Short statur...	OMIM:601216
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Short stature, Irregularity of vertebral bodies	OMIM:609324
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Lethargy	ORPHA:622
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Scoliosis, Short stature, Anterior rib cupping, Splenomegaly, Disproportionate short-...	OMIM:602271
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Lethargy	OMIM:613561
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Failure to thrive, Lethargy	OMIM:274270
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Short stature, Lumbar scoliosis, Irregular vertebral endplates, Platyspondyly	OMIM:612847
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal heart valve morphology, Abnormal intervertebral disk morphology, Hypertro...	ORPHA:1345
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends, Severe short stature	ORPHA:168555
Idiopathic Intracranial Hypertension	Depression, Back pain, Obesity, Lethargy	ORPHA:238624
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Reduced left ventricular ejection fraction, Elevated circulating ...	OMIM:181350
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis, Rhizomelia	ORPHA:85174
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Lethargy	ORPHA:26
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Short stature	OMIM:617974
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Second Metatarsal-Metacarpal Syndrome	Platyspondyly	OMIM:269630
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Failure to thrive in infancy, Hepatomegaly, Lethargy	OMIM:619064
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva...	OMIM:616828
Muscle Filaminopathy	Right bundle branch block, Cardiomyopathy, Mildly elevated creatine kinase, Left ventricular dias...	ORPHA:171445
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Lethargy	ORPHA:254857
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Short stature, Irregularity of vertebral bodies	ORPHA:85172
Spondylometaphyseal Dysplasia, Type A4	Costochondral joint sclerosis, Enlargement of the costochondral junction, Disproportionate short-...	OMIM:609052
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Pseudodiastrophic Dysplasia	Rhizomelia, Scoliosis, Failure to thrive, Hypoplasia of the odontoid process, Severe short statur...	OMIM:264180
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae, Short stature	OMIM:156510
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi...	ORPHA:98870
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti...	ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Neonatal death, Lethargy	OMIM:610498
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Lethargy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:618228
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy, Elevate...	ORPHA:206559
Dysspondyloenchondromatosis	Kyphoscoliosis, Scoliosis, Vertebral segmentation defect, Anisospondyly, Short stature, Platyspon...	ORPHA:85198
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Short stature	ORPHA:2786
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Glutaric Acidemia Type 3	Failure to thrive, Sacral dimple, Lethargy	ORPHA:35706
Congenital Myopathy 8	Cardiomegaly, Scoliosis	OMIM:618654
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Greenberg Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Anterior rib punctate calcifications, Abnormal...	ORPHA:1426
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Hump-shaped mound o...	ORPHA:99642
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Platyspondyly, Intrauterin...	OMIM:234250
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Short stature, Splenomeg...	OMIM:230650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob...	OMIM:617021
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Proportionate short stature	ORPHA:93283
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Cardiomegaly	OMIM:300886
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Short stature	OMIM:271600
Hemochromatosis, Type 2A	Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Lethargy	OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Scoliosis, Cardiomyopathy, Lethargy	OMIM:201470
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Vertebral compression fracture, Disproportionate short-limb short stature, Scoliosi...	OMIM:602557
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Failure to thrive, Neonatal death, Hypertrophic cardiomyopathy	OMIM:614096
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly, Letha...	OMIM:212140
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Atelosteogenesis, Type Ii	Stillbirth, Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae...	OMIM:256050
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia	OMIM:306000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Atrial septal defect, Ventricular septal defect, Lethargy	ORPHA:49827
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia	OMIM:612526
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short ribs, Short stature, Dysplastic sacrum, Severe platyspondyly,...	OMIM:613320
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Pericardial effusion, Ovoid verte...	OMIM:239850
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Hepatomegaly, Lethargy	ORPHA:28
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Lethargy	OMIM:600649
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Severe short stature, Kyphosis	OMIM:313420
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Childhood-onset short-trunk short stature, Hypoplasia of the odontoid process, Ir...	OMIM:184100
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly	ORPHA:75234
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Disproportionate short stature, Abnormal vertebral morphology, Vertebr...	ORPHA:93352
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Failure to thrive, Platyspondyly, Short neck, Intrauterine growth retardation	OMIM:618958
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Lethargy	OMIM:500007
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Cardiomyopathy, Failure to thrive, Splenomegaly, Lethargy	ORPHA:79312
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Intrauterine growth retardation, Hypertrophic cardiomyo...	OMIM:620135
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce...	ORPHA:90065
Ogden Syndrome	Postnatal growth retardation, Scoliosis, Ventricular septal defect, Lethargy	ORPHA:276432
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Spatulate ribs, Scoliosis, Hyperlordosis, Aortic valve stenosis, Pos...	OMIM:619698
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Scoliosis, Hump-shaped mound of bone in central and posterior porti...	OMIM:313400
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Cardiom...	OMIM:252920
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Scoliosis, Failure to thrive, Intrauterine growth retardation, Leth...	ORPHA:2169
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Disproportionate short-limb short statu...	OMIM:156530
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Failure to thrive, Hepatomegaly, Lethargy	OMIM:618226
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Central Diabetes Insipidus	Depression, Failure to thrive, Lethargy, Weight loss	ORPHA:178029
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Dilated cardiomyopathy, Lethargy	OMIM:618120
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276556
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Rhizomelia, Patent foramen ovale, Short ribs, Failure to thrive, Small for g...	OMIM:607143
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hepatomegaly, Cardiomyopathy, Lethargy	ORPHA:2394
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Failure to thrive, Atrial septal defect, Horizontal ribs, Lethargy	OMIM:614857
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Abnormal rib morphology, Platyspondyly, Short neck, Ventricular septal defect	ORPHA:93267
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr...	ORPHA:247598
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Scoliosis, Kyphosis, Platyspondyly, Multiple rib fract...	OMIM:259440
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276575
Osteogenesis Imperfecta, Type V	Vertebral wedging, Platyspondyly, Biconcave vertebral bodies, Short stature	OMIM:610967
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle...	ORPHA:563
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Bone-marrow f...	OMIM:278000
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Scoliosis, Short stature	OMIM:615220
Developmental And Epileptic Encephalopathy 41	Kyphoscoliosis, Lethargy	OMIM:617105
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276580
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Geroderma Osteodysplastica	Beaking of vertebral bodies, Vertebral compression fracture, Abnormal form of the vertebral bodie...	ORPHA:2078
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Cachexia, Hepatomegaly, Lethargy	ORPHA:42
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Left atrial enlargement, Scoliosis, Ventricular hypertrophy, Cardiomyopathy, Kyph...	OMIM:300280
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Failure to thrive, Moderately short stature	ORPHA:157965
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Severe short stature	OMIM:619598
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Mitral valve prolapse	ORPHA:90653
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Scoliosis, Short ribs, Cupped ribs, Short stature, Flared, i...	ORPHA:168549
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomeg...	ORPHA:848
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Lethargy	ORPHA:79230
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Hepatomegaly, Abnormal heart valve morphol...	OMIM:253000
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Severe short stature	ORPHA:2619
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ...	OMIM:615558
Severe Canavan Disease	Lethargy	ORPHA:314911
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly	OMIM:184840
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Scoliosis, Thin ribs, Narrow vertebral interpedicular distance, Short stature, Obesity, Irregular...	OMIM:618395
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Short stature	ORPHA:71267
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Disproportionate short stature, Scoliosis, Cupped ribs, Irregular ve...	OMIM:609616
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Osteogenesis Imperfecta, Type Xxiii	Short stature, Truncal obesity, Severe platyspondyly	OMIM:620639
Thanatophoric Dysplasia, Type Ii	Wide-cupped costochondral junctions, Short ribs, Neonatal death, Platyspondyly, Lethal short-limb...	OMIM:187601
Pontocerebellar Hypoplasia, Type 6	Failure to thrive, Lethargy	OMIM:611523
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Scoliosis, Biconcave vertebral...	OMIM:610968
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Small for gestational age, Short ribs, Intrauterine growth retardation, Hypertrophi...	OMIM:616897
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Autosomal Recessive Stickler Syndrome	Platyspondyly, Irregular vertebral endplates, Short stature	ORPHA:250984
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Hypoplasia of the odontoid p...	OMIM:184250
Gaisböck Syndrome	Hypertriglyceridemia, Myocardial infarction, Increased red blood cell count, Elevated plasma cell...	ORPHA:90041
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Thoracic kyphosis, Short stature, Disproportionate short...	ORPHA:85194
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Hepatomegaly, Lethargy	ORPHA:324575
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Vertebral compression fracture, Short stature, Multiple rib fractures, Platyspondyly,...	OMIM:616229
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Lethargy	ORPHA:276608
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Enlargement of the costochondral junction, Disproportionate short-trunk short...	OMIM:271650
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Pyle Disease	Platyspondyly, Scoliosis	OMIM:265900
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Disproportionate short-limb short stature, Osteosclerosis of ribs,...	ORPHA:174
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos...	ORPHA:846
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity	ORPHA:88643
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Short stature, Failure to thrive, Lethargy	OMIM:606054
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Lethargy	OMIM:312170
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Failure to thrive, Hepatosplenomegaly, Lethargy	OMIM:611590
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Short stature, Dilated cardiomyopathy, Lethargy	ORPHA:254913
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Intervertebral space narrowing, Abnormal lumbar spine morphology, Biconcave...	ORPHA:166011
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Scoliosis	ORPHA:3137
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Failure to thrive, Lethargy, Growth delay	OMIM:250940
Brachyolmia Type 3	Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Platyspondyly, Short neck	OMIM:113500
Cog4-Cdg	Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Dysosteosclerosis	Short stature, Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Ventri...	ORPHA:1782
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens...	ORPHA:75565
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia	OMIM:601438
Congenital Toxoplasmosis	Cardiomegaly, Failure to thrive in infancy, Hepatomegaly, Intrauterine growth retardation	ORPHA:858
Fucosidosis	Anterior beaking of lumbar vertebrae, Hepatomegaly, Kyphosis, Failure to thrive, Cardiomegaly	ORPHA:349
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Short ribs, Severe short-limb dwarfism, Hypoplastic vertebr...	ORPHA:2347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Lethargy	OMIM:236270
Combined Oxidative Phosphorylation Deficiency 10	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to th...	OMIM:614702
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Hypercalcemia, Infantile, 1	Failure to thrive, Lethargy, Weight loss	OMIM:143880
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Metaphyseal Chondrodysplasia, Schmid Type	Scoliosis, Proportionate short stature, Short stature, Irregular vertebral endplates, Mild short ...	OMIM:156500
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Kyphosis, Short stature, Platyspondyly	OMIM:259450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Hepatomegaly, Lethargy	ORPHA:289916
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Kyphosis, Abnormal sacroiliac joint morphology, Platys...	ORPHA:2655
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Intervertebral space narrowing, Abnormal lumbar spine morphology, Scoliosis, Thor...	ORPHA:93284
Progressive Pseudorheumatoid Arthropathy Of Childhood	Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ...	ORPHA:1159
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Thin ribs, Short stature, Platyspondyly, Intrauterine growth retard...	OMIM:300863
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Disproportionate s...	ORPHA:1856
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short ribs, Th...	OMIM:618961
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Disproportionate short-limb short stature, Short ribs, V...	OMIM:241500
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Kyphosis, Abnormal rib morphology, Sho...	ORPHA:582
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Weight loss	ORPHA:85447
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Ovoid vertebral bodie...	ORPHA:1517
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Cardiomyopathy, Lethargy	ORPHA:27
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ...	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Hepatomegaly, Cardiomyopathy, Neonatal death, Lethargy	OMIM:614922
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:603776
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hepatomegaly, Lethargy	OMIM:238970
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation, Leth...	ORPHA:79284
Schneckenbecken Dysplasia	Stillbirth, Disproportionate short-limb short stature, Short ribs, Narrow vertebral interpedicula...	OMIM:269250
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Short stature, Atlantoaxial instability, Platyspondyly, Short neck	OMIM:184095
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Failure to thrive, Lethargy	ORPHA:2089
Pseudoachondroplasia	Beaking of vertebral bodies, Disproportionate short-limb short stature, Abnormal form of the vert...	ORPHA:750
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	OMIM:614299
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis, Short stature	ORPHA:2771
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Cardiomegaly, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	OMIM:201475
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy	ORPHA:156
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Splenomegaly, Weight loss, Cardiomegaly, Apathy, Lethargy	ORPHA:465508
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli...	ORPHA:567548
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Hepatomegaly, Lethargy	ORPHA:927
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:613982
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Wide-cupped costochondral junctions, Short ribs, Neona...	OMIM:187600
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H...	ORPHA:86816
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Myofiber disarray	OMIM:604377
ERI1-related disease	Increased vertebral height, Scoliosis, Decreased body weight, Intrauterine growth retardation, Sh...	OMIM:608739
Classic Galactosemia	Depression, Hepatomegaly, Lethargy, Delayed puberty	ORPHA:79239
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Patent foramen ovale, Pericardial effusion, Overweight, Obesity, Small for gestatio...	ORPHA:26793
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Anterior beaking of lumbar vertebrae, Platyspondyly, Spatulate ribs...	OMIM:253220
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Rhizomelia, Thin ribs, Short ribs, Wafer-thin plat...	OMIM:151210
Riboflavin Deficiency	Lethargy	OMIM:615026
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Scoliosis, Vertebral segmentation defect, Abnormal heart morphology	ORPHA:531151
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Rhizomelia	OMIM:619638
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri...	ORPHA:1329
Morgagni-Stewart-Morel Syndrome	Hypertension, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Dextrocardia, Short stature, Failure to thrive, Small for gestational age, Atrial s...	OMIM:277380
Anauxetic Dysplasia 1	Rhizomelia, Thoracic kyphosis, Aortic valve stenosis, Severe short stature, Atlantoaxial dislocat...	OMIM:607095
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Hepatomegaly, Short stature, Hypoplastic vertebral bodies, Splenomeg...	OMIM:618641
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Short stature, Atlantoaxial instability, Hypopl...	OMIM:607326
Galactokinase Deficiency	Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatosplenomegaly	ORPHA:79237
Thanatophoric Dysplasia Type 2	Platyspondyly, Atrial septal defect, Kyphosis, Short stature	ORPHA:93274
Pseudo-Torch Syndrome 2	Thin ribs, Secundum atrial septal defect, Lethargy, Hepatomegaly	OMIM:617397
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Ovoid vertebral bodies, Platyspondyly, Posterior rib c...	OMIM:608728
Infantile Sialic Acid Storage Disease	Cardiomegaly, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:269920
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Thin ribs, Short stature, Ovoid vertebral bodies, Platyspondyly	OMIM:620601
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Increased body weight, Kyphosis, Short stature, Failure to thrive, Abdominal obesity, ...	ORPHA:398069
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Butterfly vertebrae, Cervical spinal canal stenosis, Abnormality of...	ORPHA:79345
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Short stature	ORPHA:319195
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Platyspondyly, Cervical instability, Abnormal vertebral morphology, Abnormally ossified vertebrae	ORPHA:93346
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Primary Familial Polycythemia	Polycythemia, Epistaxis, Abnormal hemoglobin	ORPHA:90042
Mulibrey Nanism	Hepatomegaly, Pericardial constriction, Short stature, Growth delay, Myocardial fibrosis, Cardiom...	OMIM:253250
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral ...	OMIM:231070
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hepatomegaly, Cardiomyopathy, Lethargy	OMIM:251000
Stickler Syndrome, Type Iv	Platyspondyly, Scoliosis, Intervertebral space narrowing, Short stature	OMIM:614134
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Scoliosis, Severe short stature	OMIM:126550
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple...	ORPHA:398124
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy, Increased C-peptide ...	ORPHA:528
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Small for gestational age, Thin ribs, Platyspondyly, M...	OMIM:166210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Cardiomyopathy, Abnormal erythrocyte enzyme concentration or activi...	ORPHA:264580
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Weight loss	ORPHA:79242
Odontochondrodysplasia	Platyspondyly, Scoliosis, Short stature	ORPHA:166272
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Central Neurocytoma	Depression, Lethargy	ORPHA:73256
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Neonatal death, Lethargy	OMIM:605711
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Failure to thrive, Dilated cardiomyopathy, Lethargy	OMIM:609015
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Hepatomegaly, Platyspondyly, Scoliosis, Failure to thrive, Hypoplast...	OMIM:230600
Citrullinemia Type I	Failure to thrive, Lethargy	ORPHA:247525
Gaucher Disease, Type I	Aortic valve stenosis, Hepatomegaly, Splenomegaly, Vertebral compression fracture	OMIM:230800
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Lethargy	OMIM:255120
Smith-Mccort Dysplasia 2	Hyperlordosis, Decreased body weight, Short stature, Hypoplasia of the odontoid process, Dispropo...	OMIM:615222
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Dilated cardiomyopathy, Hypercholesterolemia, Aortic regurgitation	ORPHA:401923
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve p...	ORPHA:324410
Pyruvate Dehydrogenase Deficiency	Intrauterine growth retardation, Lethargy, Growth delay	ORPHA:765
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Proportionate short stature, Failure to thrive, Intrauterine growth ...	ORPHA:71212
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Aortic valve stenosis, Ovoid vertebral bodies, ...	OMIM:253010
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Osteogenesis Imperfecta, Type Xviii	Biconcave vertebral bodies, Thin ribs, Vertebral compression fracture	OMIM:617952
Fibrochondrogenesis 2	Platyspondyly, Short ribs, Cupped ribs	OMIM:614524
Typhoid	Splenomegaly, Hepatomegaly, Lethargy	ORPHA:99745
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Scoliosis, Short stature	ORPHA:2107
Spondyloocular Syndrome	Vertebral compression fracture, Decreased body weight, Dysplastic aortic valve, Short stature, Mi...	OMIM:605822
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Rhizomelia, Abnormality of the vertebral column, Failure to thrive, ...	ORPHA:239
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia...	OMIM:615812
Osteogenesis Imperfecta, Type X	Rhizomelia, Vertebral compression fracture, Scoliosis, Thin ribs, Short stature, Thoracic scolios...	OMIM:613848
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Short stature, Irregular vertebral endplates, Moderately short stature, Platyspon...	OMIM:612350
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Cole-Carpenter Syndrome 1	Short stature, Scoliosis, Vertebral compression fracture	OMIM:112240
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Mitral v...	OMIM:108300
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Pear-shaped vertebrae, Irregular sclerotic endplates, Flared, irregular rib ends, Pla...	OMIM:602111
Cholestasis, Progressive Familial Intrahepatic, 8	Increased serum bile acid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Elev...	OMIM:619662
Odontochondrodysplasia 1	Biconvex vertebral bodies, Mesomelic short stature, Scoliosis, Short stature, Coronal cleft verte...	OMIM:184260
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiomyopathy, Lethargy, Hepatomegaly	OMIM:212138
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Cardiomyopathy, Kyphosis, Short ...	ORPHA:354
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Lethargy	OMIM:201100
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Scrub Typhus	Myocarditis, Splenomegaly, Lethargy	ORPHA:83317
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Fibrochondrogenesis 1	Stillbirth, Posterior rib cupping, Rhizomelia, Thin ribs, Posterior vertebral hypoplasia, Short r...	OMIM:228520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large for gestational age, Coat hanger sign of ribs, Abnormal heart...	ORPHA:254534
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Disproportionate short-limb short stature, Abnormal rib morphology	ORPHA:93351
Myotonic Dystrophy 2	Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu...	OMIM:602668
Mycetoma	Back pain, Vertebral compression fracture, Abnormal form of the vertebral bodies	ORPHA:2583
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Thin ribs, Short stature, Platyspondyly, Intrauterine growth retardation	ORPHA:163966
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Lethargy	OMIM:615838
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H...	ORPHA:79240
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Scoliosis, Hypoplasia of the odontoid process, Disproportionate short-trunk short...	OMIM:184252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Neonatal short-trunk short stature, Scoliosis, Kyphosis, Short sta...	ORPHA:93360
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef...	ORPHA:439
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Cardiomegaly, Short neck, Ventricular septal defect, Intrau...	OMIM:617022
Otospondylomegaepiphyseal Dysplasia	Disproportionate short stature, Abnormal vertebral morphology, Abnormally ossified vertebrae, Cor...	ORPHA:1427
Sim1-Related Prader-Willi-Like Syndrome	Scoliosis, Failure to thrive, Obesity, Abdominal obesity, Lethargy	ORPHA:398079
Susac Syndrome	Apathy, Lethargy	ORPHA:838
Fabry Disease	Optic atrophy, Congestive heart failure, Abnormal circulating lipid concentration, Anemia, Angina...	ORPHA:324
Dihydropyrimidinase Deficiency	Growth delay, Failure to thrive, Lethargy	OMIM:222748
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein concentration, A...	ORPHA:93672
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Hepatomegaly, Thin ribs, Short ribs, Short sternum, Coronal cleft vertebrae,...	OMIM:620076
Desbuquois Dysplasia 1	Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Kyphosis, Growth delay, Obes...	OMIM:251450
Ollier Disease	Platyspondyly	ORPHA:296
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Thin ribs, Kyphosis, Short stature, Platyspondyly	OMIM:616294
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Platyspondyly, Decreased cervical spine mobility, Sclerotic vertebral endplates	OMIM:208230
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Lethargy	OMIM:237300
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies, Obesity, Abdominal obesity	OMIM:219090
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Necrotizing Enterocolitis	Small for gestational age, Abnormal heart morphology, Lethargy	ORPHA:391673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Arrhythmia, Ventricular bigeminy, Left bundle...	OMIM:610131
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age, Hepatomegaly, Lethargy	ORPHA:263455
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:619051
Pseudoachondroplasia	Beaking of vertebral bodies, Childhood onset short-limb short stature, Spatulate ribs, Disproport...	OMIM:177170
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Growth...	ORPHA:94068
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Vertebral compression fracture	OMIM:620232
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Overweight, Lethargy, Growth delay	ORPHA:99832
Eisenmenger Syndrome	Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave...	ORPHA:97214
Bruck Syndrome 2	Platyspondyly, Short stature	OMIM:609220
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cardiomyopathy, Lethargy, Left ventricular hypertrophy	ORPHA:746
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Angina pectoris, Incr...	ORPHA:412
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ...	OMIM:306955
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasia, Pancytopen...	OMIM:617052
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Thoracic kyphosis, Anisospondyly, Ovoid vertebral bodies, Platyspondyly, Short neck	ORPHA:163649
Craniofaciofrontodigital Syndrome	Large for gestational age, Cardiomegaly, Abnormal heart valve morphology, Scoliosis, Aortic valve...	ORPHA:363705
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c...	ORPHA:470
Spondyloepiphyseal Dysplasia Congenita	Neonatal short-trunk short stature, Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebra...	OMIM:183900
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Disproportionate short-limb short stature, Intrauterine growth retardation, Verte...	OMIM:618644
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia...	ORPHA:466677
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dilated cardiomyopathy, Hepatomegaly, Lethargy	OMIM:251110
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Scoliosis, Short stature, Coronal cleft vertebrae, Platyspondyly, Short neck, Cer...	OMIM:255800
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Intrauterine growth retardation, Le...	ORPHA:2609
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Right atrial enlargement, Failure to thrive, Mitral valve prolapse, Lethargy	OMIM:620233
Renal Hypoplasia, Bilateral	Short stature, Failure to thrive, Growth delay, Lethargy, Small for gestational age	ORPHA:97362
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Biconvex vertebral bodies, Abnormal vertebral morphology, Intervertebral space narrowing, C1-C2 v...	ORPHA:93315
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Anemia, Vacuolated lymphocytes, Bon...	ORPHA:275761
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Abnormality of the vertebral column, Scoliosis, Severe short stature, Disproporti...	ORPHA:93316
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly	OMIM:601356
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Thin ribs, Thoracic kyphosis, Short stature, Hypoplasia of the odontoid process, ...	OMIM:300232
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Platyspondyly, Vertebral compression fracture, Short stature	OMIM:616507
Gaucher Disease Type 1	Delayed puberty, Hepatomegaly, Vertebral compression fracture, Depression, Short stature, Growth ...	ORPHA:77259
Insulinoma	Increased body weight, Lethargy	ORPHA:97279
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Scoliosis, Disproportionate short-limb short stature	OMIM:619131
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Rhizomelia, Lumbar hyperlordosis	OMIM:612813
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Thanatophoric Dysplasia Type 1	Kyphosis, Abnormal sacroiliac joint morphology, Platyspondyly, Atrial septal defect, Lethal short...	ORPHA:1860
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Short stature, Splenomegaly, Cardiomegaly	OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy	OMIM:608836
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Short stature, Coronal cleft vertebrae, Platyspondyly, Lumbar hyperl...	OMIM:215150
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Scoliosis, Decreased body weight, Short stature, Platyspondyly	OMIM:614856
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Postnatal growth retardation, Enlargement of the costochondral junct...	OMIM:223800
Kniest Dysplasia	Disproportionate short stature, Fused cervical vertebrae, Vertebral wedging, Cervical spine insta...	ORPHA:485
Isovaleric Acidemia	Lethargy	OMIM:243500
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Hypercholesterolemia	OMIM:618348
Osteogenesis Imperfecta, Type Viii	Vertebral compression fracture, Disproportionate short-limb short stature, Scoliosis, Thin ribs, ...	OMIM:610915
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Lethargy	OMIM:237310
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Lethargy	OMIM:620306
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Alobar Holoprosencephaly	Depression, Scoliosis, Short stature, Failure to thrive, Growth delay, Abnormal heart morphology,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Scoliosis, Short stature, Failure to thrive, Growth delay, Abnormal heart morphology,...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Scoliosis, Short stature, Failure to thrive, Growth delay, Abnormal heart morphology,...	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Scoliosis, Short stature, Failure to thrive, Growth delay, Abnormal heart morphology,...	ORPHA:220386
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Lethargy	OMIM:210200
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Platyspondyly, Thoracolumbar kyphoscoliosis, Severe short stature	OMIM:618853
Long-Olsen-Distelmaier Syndrome	Failure to thrive, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricul...	OMIM:620609
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231214
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Eunuchoid habitus, Thin ribs, Lumbar hemivertebrae	ORPHA:2463
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Bundle branch block	ORPHA:589821
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem...	ORPHA:99827
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies	OMIM:602080
Evans Syndrome	Lethargy	ORPHA:1959
Schimke Immunoosseous Dysplasia	Thoracic kyphosis, Intrauterine growth retardation, Growth delay, Ovoid vertebral bodies, Disprop...	OMIM:242900
Sillence Syndrome	Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Back pain, Slender bu...	ORPHA:3168
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Hepatosplenomegaly, Splenomegal...	OMIM:614866
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Immunodeficiency 47	Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Tricuspid regurg...	OMIM:300972
Hajdu-Cheney Syndrome	Kyphoscoliosis, Vertebral compression fracture, Cervical instability, Biconcave vertebral bodies,...	OMIM:102500
Neuhauser Syndrome	Retinal detachment, Hypercholesterolemia	OMIM:249310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Portal hypertension	OMIM:620367
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Postnatal growth retardation, Disproportionate short-limb short stature, Anterior scalloping of v...	OMIM:611717
Diamond-Blackfan Anemia	Short stature, Growth delay, Abnormal heart morphology, Small for gestational age, Short neck, At...	ORPHA:124
Saul-Wilson Syndrome	Postnatal growth retardation, Short stature, Hypoplasia of the odontoid process, Irregular verteb...	OMIM:618150
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Beaking of vertebral bodies T12-L3, Hepatomegaly, Severe postnatal growth retard...	OMIM:252500
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, Sacral dimple, Abnormal vertebral morphology, Increased...	OMIM:620662
Kniest Dysplasia	Rhizomelia, Coronal cleft vertebrae, Lumbar kyphoscoliosis, Disproportionate short-trunk short st...	OMIM:156550
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Rhizomelia, 11 pairs of ribs, Cardiomegaly, Scoliosis, Patent foramen oval...	OMIM:245600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Spinal rigidity, Hyperlordosis, Right ventricular hypertrophy	ORPHA:268
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Lethargy	OMIM:201450
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiomyopathy, Lethargy	ORPHA:159
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Schimke Immuno-Osseous Dysplasia	Intrauterine growth retardation, Short stature, Failure to thrive, Growth delay, Ovoid vertebral ...	ORPHA:1830
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Disproportionate short stature, Rhizomelia, Kyphosis, Neonatal death, Severe short stature, Platy...	OMIM:616482
Gm1 Gangliosidosis Type 1	Beaking of vertebral bodies T12-L3, Spatulate ribs, Cardiomyopathy, Hypoplastic vertebral bodies,...	ORPHA:79255
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Weight loss, Dilated cardiomyopathy, Apathy, Lethargy	ORPHA:20
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Lethargy, Left ventricular hypertrophy	OMIM:618321
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Supernumerary vertebral ossification centers, Stil...	OMIM:215140
Medulloblastoma	Back pain, Lethargy	ORPHA:616
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomega...	OMIM:608013
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Steatorrhea, Anemia, Acute myeloid leukemia, Macrocytic anemi...	ORPHA:811
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Rhizomelic arm shortening, Kyphosis, Short stature, Ovoid vertebral bo...	OMIM:271700
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Depression, Bipolar affective disorder, Failure to thrive, Left ventricular hypertr...	ORPHA:254892
Acromesomelic Dysplasia 4	Beaking of vertebral bodies, Disproportionate short stature, Enlargement of the costochondral jun...	OMIM:619636
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Rhizomelia, Neonatal short-trunk short stature, Sc...	ORPHA:1190
Desbuquois Dysplasia 2	Postnatal growth retardation, Severe short stature, Platyspondyly, Short neck, Truncal obesity, I...	OMIM:615777
Histiocytoid Cardiomyopathy	Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f...	ORPHA:137675
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Anterior rib cupping, Severe short stature, Platyspondyly, Lumbar hyperlordosis	OMIM:184253
Dengue Fever	Hepatomegaly, Lethargy	ORPHA:99828
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Vertebral compression fracture, Short stature, Mitral valve prolapse, C1-C2 sublu...	OMIM:259600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Hyperlordosis, Short stature, Hypoplasia of the odontoid process, Irregular vertebr...	OMIM:226980
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh...	ORPHA:1880
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Increased vertebral height, Scoliosis, Severe intrauterine growth retardation, Short stature, Pla...	OMIM:620663
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Anemia, Hypercholesterolemia, Hyperuricemia, Hypertension, Chr...	ORPHA:79259
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Port...	ORPHA:186
Lowry-Wood Syndrome	Platyspondyly, Short stature	ORPHA:1824
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela...	OMIM:619774
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Familial Hypoaldosteronism	Growth delay, Failure to thrive, Lethargy	ORPHA:427
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia, Rod-cone dystrophy, Retinal vascular tortuosity	OMIM:619471
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Dilated cardiomyopat...	ORPHA:261250
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Failure to thrive, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Decreased body weight, Cervical spine instability, Short stature, Platyspondyly	OMIM:615349
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Rhizomelia, Scoliosis, Cupped ribs, Short stature, Ovoid vertebral ...	OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Short stature, Short neck	OMIM:309583
Congenital Disorder Of Glycosylation, Type Iiaa	Hyperammonemia, Persistent patent ductus venosus, Hypercholesterolemia	OMIM:620454
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Intrauterine growth retardation	OMIM:618838
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Growth delay, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation, Dila...	ORPHA:79282
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Disproportionate short-limb short stature	ORPHA:85166
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Leukopenia, Thr...	OMIM:127550
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinem...	ORPHA:90674
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Hepatomegaly, Lethargy	OMIM:251100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Thoracolumbar kyphosis, Platyspondyly, Cervical instability, Disproportionate sho...	OMIM:617425
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Czech Dysplasia	Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Plat...	OMIM:609162
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Growth delay, Short neck, Overweight, Lethargy, Decreased cervical spine mobi...	ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, ...	OMIM:252010
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Patent foramen ovale, Hyperlordosis, Short stature, ...	ORPHA:457395
Hydranencephaly	Intrauterine growth retardation, Postnatal growth retardation, Dilatation of the ventricular cavi...	ORPHA:2177
Meningococcal Meningitis	Lethargy	ORPHA:33475
Dysosteosclerosis	Disproportionate short stature, Increased intervertebral space, Short ribs, Short sternum, Hypopl...	OMIM:224300
Spinal Cord Injury	Vertebral compression fracture	ORPHA:90058
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hyperlordosis, Kyphosis, Th...	OMIM:618019
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Cardiomegaly	OMIM:618798
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Scoliosis, Short stature, Thoracolumbar scoliosis, Platyspondyly, Short neck	OMIM:616723
Transcobalamin Ii Deficiency	Failure to thrive, Hepatomegaly, Lethargy	OMIM:275350
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy	OMIM:229700
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Rhizomelic arm shortening, Abnormal rib morphology, ...	ORPHA:93317
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Platyspondyly, Scoliosis, Postnatal growth retardation, Intrauterine growth retardation	OMIM:612394
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Thoracic scoliosis,...	ORPHA:79330
Maple Syrup Urine Disease, Type Ia	Lethargy	OMIM:248600
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertension, Aortic valve ...	ORPHA:363618
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, Scoliosis, Patent foramen ovale, Ventricular septal defect, Kyph...	OMIM:300967
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Postnatal growth retardation, Rhizomelia, Vertebral segmenta...	ORPHA:263508
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Vertebral wedging, Short ribs, Platyspondyly, Missing ribs	OMIM:617866
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Intrauterine growth ret...	OMIM:617713
Hemochromatosis, Type 1	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:235200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Rhizomelia, Disproportionate short-limb short stature, Thoracic kyphosis, Lumbar ...	OMIM:271510
Low Phospholipid-Associated Cholelithiasis	Hypertension, Hypercholesterolemia	ORPHA:69663
Citrullinemia, Classic	Failure to thrive, Hepatomegaly, Lethargy	OMIM:215700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Bicuspid aortic valve, 11 pairs of ribs, Decreased body weight, Cupped ribs, Ovoi...	OMIM:271640
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
Atelosteogenesis, Type I	Stillbirth, Fused cervical vertebrae, 11 pairs of ribs, Disproportionate short-limb short stature...	OMIM:108720
Multiple Myeloma	Weight loss, Splenomegaly, Vertebral compression fracture	ORPHA:29073
Achondroplasia	Neonatal short-limb short stature, Rhizomelia, Short ribs, Narrow vertebral interpedicular distan...	OMIM:100800
Osteogenesis Imperfecta	Abnormal endocardium morphology, Rhizomelia, Vertebral compression fracture, Abnormal form of the...	ORPHA:666
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Postnatal growth retardation, Congenital kyphoscolio...	ORPHA:536467
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Scoliosis, Proportionate short stature, Growth delay, Obesity, Platyspondyly	OMIM:619269
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Late-Onset Isolated Acth Deficiency	Failure to thrive, Lethargy, Weight loss	ORPHA:199299
Opsismodysplasia	Posterior rib cupping, Rhizomelia, Disproportionate short-limb short stature, Scoliosis, Hypoplas...	OMIM:258480
Myhre Syndrome	Enlarged vertebral pedicles, Intrauterine growth retardation, Aortic valve stenosis, Pericardial ...	OMIM:139210
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Lethargy	OMIM:210210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Scoliosis, Cupped ribs, Ovoid vertebral bodies, Severe short stature, Platyspondyly	ORPHA:85167
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy	OMIM:607483
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Small for gestational age, Failure to thrive, Hepatomegaly, Lethargy	OMIM:277400
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy, Partial atrioventricular canal defect	OMIM:620423
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr...	OMIM:105650
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Lethargy	OMIM:253260
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Increased intervertebral space, Scoliosis, Short stature, Irregular vertebral end...	OMIM:607944
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hypercholesterolemia	OMIM:151660
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Platyspondyly, Sclerotic vertebral body, Kyphosis	OMIM:618476
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Failure to thrive, Lethargy	ORPHA:395
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Scoliosis, Hepatomegaly	OMIM:618143
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Optic atrophy, Right bundle branch block	OMIM:618590
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, Myocardial infar...	ORPHA:500
Trisomy 20P	Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Platys...	ORPHA:261318
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Disproportionate short stature, Sacral dimple, Hepatomegaly, Cerv...	ORPHA:508533
Argininosuccinic Aciduria	Failure to thrive, Hepatomegaly, Lethargy	OMIM:207900
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Depression, Cardiomyopathy, Cardiomegaly	OMIM:619259
Porphyria, Congenital Erythropoietic	Short stature, Hepatomegaly, Splenomegaly, Vertebral compression fracture	OMIM:263700
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Abnormal form of the vertebral bodies, Scoliosis,...	ORPHA:581
Myhre Syndrome	Abnormal rib morphology, Severe short stature, Platyspondyly, Intrauterine growth retardation, Ab...	ORPHA:2588
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Hereditary Fructose Intolerance	Growth delay, Hepatomegaly, Lethargy	ORPHA:469
Homozygous Familial Hypercholesterolemia	Abnormal left ventricular function, Hypercholesterolemia, Angina pectoris, Increased LDL choleste...	ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hyperaldosteronism, Chorio...	ORPHA:534
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Rhizomelia, 11 pairs of ribs, Short ribs, Cupped rib...	OMIM:250220
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Hepatomegaly, Short stature, Growth delay, Cardiomegaly, Dilated cardiomyopathy,...	OMIM:614921
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Failure to thrive, Hepatomegaly, Lethargy	OMIM:557000
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Short stature, Ovoid vertebral bodies, M...	OMIM:231050
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Lethargy	OMIM:311250
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Kyphoscoliosis, Abnormal vertebral morphology, Congenital kyphoscoli...	ORPHA:536471
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Shwachman-Diamond Syndrome 1	Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy...	OMIM:260400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hepatomegaly, Lethargy	ORPHA:415
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Failure to thrive, Anterior rib cupping, Splenomegaly, Platyspondyly	OMIM:102700
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Glycerol Kinase Deficiency	Small for gestational age, Lethargy, Short stature, Growth delay	OMIM:307030
Cirrhosis, Familial	Lethargy	OMIM:215600
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Scoliosis, Hyperlordosis, Hypertrophic cardiomyopathy, Failure to thrive, Left vent...	ORPHA:365
Encephalitis Lethargica	Lethargy	ORPHA:83600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Left ventricular hypertrophy, Cardi...	ORPHA:308552
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Spondyloenchondrodysplasia	Platyspondyly, Disproportionate short-trunk short stature, Kyphosis, Short stature	ORPHA:1855
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Short stature, Platyspondyly, Ventricular septal defect, Broad ribs	OMIM:619727
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Right bundle branch block, Tricuspid regurgitation, Hypertrophic cardiomy...	OMIM:617506
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr...	OMIM:614008
Schwartz-Jampel Syndrome	Spinal rigidity, Cachexia, Scoliosis, Hyperlordosis, Decreased body weight, Abnormally ossified v...	ORPHA:800
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao...	ORPHA:2299
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Short ribs, Horizontal ribs, Platyspondyly, Atrial septal defect, Ventricular septal defect	OMIM:263520
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Vertebral compression fracture, Scoliosis, Short stature, Multiple rib fractures	OMIM:610682
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Intrauterine growth retardation	ORPHA:158687
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Kyphomelic Dysplasia	Platyspondyly, Disproportionate short stature, Anterior rib cupping, Undulate ribs	OMIM:211350
Cholera	Lethargy	ORPHA:173
Marburg Hemorrhagic Fever	Back pain, Lethargy, Pericarditis	ORPHA:99826
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Abetalipoproteinemia	Kyphoscoliosis, Failure to thrive, Hepatomegaly, Cardiomegaly	ORPHA:14
Trichinellosis	Apathy, Lethargy	ORPHA:863
Ogden Syndrome	Left atrial enlargement, Postnatal growth retardation, Perimembranous ventricular septal defect, ...	OMIM:300855
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Alagille Syndrome 1	Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia, Pigmentary retinopathy	OMIM:118450
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Lethargy	ORPHA:68
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Disproportionate short stature, Muscular ventricular septal defect, 11 pairs of ribs,...	OMIM:210710
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Hyp...	OMIM:606721
Biotinidase Deficiency	Lethargy	ORPHA:79241
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonic stenosis, Short stature, Hepatosplenomegaly, Splenomegaly, Mitral valve pr...	OMIM:602782
Cushing Disease	Vertebral compression fracture, Depression, Increased body weight, Abdominal obesity, Truncal obe...	ORPHA:96253
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Anemia, Abnormal hemoglobin	ORPHA:847
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Scoliosis, Intrauterine growth retardation, Short stature, Failure to thri...	OMIM:612289
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Short stature	OMIM:208000
Leopard Syndrome 1	Pulmonic stenosis, Bundle branch block, Third degree atrioventricular block, Hypertrophic cardiom...	OMIM:151100
Primary Hyperoxaluria	Optic atrophy, Heart block, Choroidal neovascularization, Hyperoxaluria, Cardiomyopathy, Retinopa...	ORPHA:416
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Congenital Tracheomalacia	Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary ve...	ORPHA:95430
Marshall Syndrome	Platyspondyly, Short stature	OMIM:154780
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Stickler Syndrome	Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis, Short st...	ORPHA:828
Osteoglophonic Dysplasia	Rhizomelia, Growth delay, Failure to thrive, Severe short stature, Platyspondyly, Short neck	OMIM:166250
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Polysplenia	ORPHA:373
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Biliary, Renal, Neurologic, And Skeletal Syndrome	Bidirectional shunt, Aortic regurgitation, Hyperbilirubinemia, Cardiac arrest, Pulmonary arterial...	OMIM:619534
Alpha-Mannosidosis, Infantile Form	Depression, Hepatosplenomegaly, Platyspondyly, Short neck, Thickened ribs	ORPHA:309282
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Short ribs, Rhizomelia, Neonatal short-limb short stature	ORPHA:50945
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Growth delay, Abnormal heart morphology, Tetralogy of F...	ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Hepatomegaly, Cardiomegaly, Ventricular septal defect, Intrauterine...	ORPHA:96191
Aicardi-Goutières Syndrome	Scoliosis, Hypertrophic cardiomyopathy, Short stature, Hepatosplenomegaly, Cardiomegaly	ORPHA:51
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Scoliosis, Kyphosis,...	OMIM:208400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Posterior rib cupping, Disproportionate short-limb short stature, Scoliosis, Short ribs, Progress...	OMIM:271665
Fructose Intolerance, Hereditary	Failure to thrive, Hepatomegaly, Lethargy	OMIM:229600
Bohring-Opitz Syndrome	Severe failure to thrive, Short stature, Cardiomegaly, Intrauterine growth retardation, Abnormal ...	ORPHA:97297
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology	ORPHA:228308
Williams Syndrome	Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Pulmonic stenosis, Mitral valve p...	ORPHA:904
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Patent foramen ovale, Decreased body weight, Short stature, Cardiomegaly, Small for gestational age	OMIM:620371
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Posterior scalloping of vertebral bodies, Irregular vertebral endplates, Platyspon...	OMIM:610442
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Stillbirth, Postnatal growth retardation, Spondylolysis, Short ribs, Short statur...	OMIM:304120
Sponastrime Dysplasia	Kyphoscoliosis, Rhizomelia, Hyperconvex vertebral body endplates, Disproportionate short-limb sho...	ORPHA:93357
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula...	OMIM:309000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:603903
Singleton-Merten Syndrome 1	Scoliosis, Decreased body weight, Mitral valve calcification, Aortic valve stenosis, Short statur...	OMIM:182250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Kufor-Rakeb Syndrome	Bradykinesia, Apathy, Lethargy	ORPHA:306674
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Lethargy	OMIM:218700
Occipital Horn Syndrome	Platyspondyly, Growth delay, Kyphosis, Broad ribs	OMIM:304150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Thin ribs, Platyspondyly, Progressive congenital scoliosis	OMIM:225400
Multiple Endocrine Neoplasia Type 1	Depression, Lethargy, Weight loss	ORPHA:652
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Yunis-Varon Syndrome	Postnatal growth retardation, Severe failure to thrive, Short ribs, Cardiomyopathy, Short stature...	ORPHA:3472
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Subarterial ventricular septal defect, Short stature, Lumbar scoliosis, Failure to thrive, Secund...	ORPHA:99646
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Intrauterine gro...	OMIM:620376
Glycine Encephalopathy	Lethargy	ORPHA:407
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Disproportionate short-tru...	OMIM:300106
Cushing Syndrome Due To Ectopic Acth Secretion	Vertebral compression fracture, Depression, Increased body weight, Weight loss, Abdominal obesity...	ORPHA:99889
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy	OMIM:617403
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Growth delay, Failu...	ORPHA:2273
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Alkaptonuria	Myocardial infarction, Hypertension, Aortic valve stenosis, Mitral stenosis, Mitral regurgitation...	ORPHA:56
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Intrauterine growth retardation, Atrial sep...	OMIM:617190
Generalized Arterial Calcification Of Infancy	Fused cervical vertebrae, Ventricular hypertrophy, Pericardial effusion, Cardiomegaly, Failure to...	ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Short stature, Failure to thrive, Growth delay, Splenomegaly, Cardiomegaly	OMIM:256040
Cutis Laxa, Autosomal Recessive, Type Iic	Right bundle branch block, Aortic regurgitation, Tricuspid regurgitation	OMIM:617402
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Intrauterine growth retardation, Fai...	OMIM:619991
Pineoblastoma	Lethargy	ORPHA:251909
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Beckwith-Wiedemann Syndrome	Large for gestational age, Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopa...	ORPHA:116
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly	OMIM:130650
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Pmm2-Cdg	Kyphoscoliosis, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Failure to thriv...	ORPHA:79318

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term dysplasia	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM		Early adult
Eye - MPATH pathological process term dysplasia	Asxl2^{tm1b(EUCOMM)Hmgu}	HET		Early adult

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 Asxl2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Myeloid-specific Asxl2 deletion limits diet-induced obesity by regulating energy expenditure.	The Journal of clinical investigation (April 2020)	Asxl2^{tm1c(EUCOMM)Hmgu} Asxl2^{tm1a(EUCOMM)Hmgu}	32310225

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MGI Allele	Allele Type	Produced
Asxl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Asxl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Asxl2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

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: Asxl2 MGI:1922552

Gene Summary

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lacZ Expression

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Human diseases caused by Asxl2 mutations

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