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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
preweaning lethality, incomplete penetrance	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating cholesterol level	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.81×10^-05
increased circulating alkaline phosphatase level	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.53×10^-06
increased mean corpuscular hemoglobin concentration	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.92×10^-05
decreased mean corpuscular volume	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.85×10^-06
abnormal retina morphology	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.97×10^-06
prolonged QRS complex duration	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.48×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

Images Ophthalmoscopy

15 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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Eye Morphology

Images Slit Lamp

1 Images

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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 (767 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, Kyphosis, Scoliosis, Atrial septal defect, Intrauterine growth r...	OMIM:617190

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

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis	ORPHA:93304
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Short stature, Disproportionate short-trunk short s...	ORPHA:163665
Brachyolmia, Maroteaux Type	Platyspondyly, Short stature, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Tetralogy of Fallot, Abnormality of the vertebral column, Lethargy, Failure to thrive, Abnormal v...	OMIM:250620
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Osteoarthritis With Mild Chondrodysplasia	Short stature, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebral...	OMIM:604864
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ...	OMIM:609223
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Brachyolmia Type 2	Platyspondyly, Short stature	OMIM:613678
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Spondyloepiphyseal Dysplasia, Stanescu Type	Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies	OMIM:616583
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Platyspondyly, Severe short stature, Scoliosis	OMIM:618728
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Proportionate short stature	OMIM:608361
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat...	OMIM:271630
Morquio Syndrome C	Platyspondyly, Severe short stature	OMIM:252300
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo...	OMIM:271530
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Failure to thrive, Lethargy, Intrauterine growth retardation	ORPHA:26792
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Epiphyseal Dysplasia, Multiple, 7	Mild short stature, Platyspondyly, Vertebral wedging	OMIM:617719
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Small for gestational age, Lethargy	OMIM:617065
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Dental Anomalies And Short Stature	Short stature, Mitral valve prolapse, Platyspondyly, Herniation of intervertebral nuclei, Scolios...	OMIM:601216
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly, Short stature	OMIM:609324
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr...	OMIM:181350
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Lethargy, Failure to thrive	OMIM:274270
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Hypertrophic cardiomyopathy, Abnormal intervertebral disk morphology, Abnormal heart valve morpho...	ORPHA:1345
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Growth delay, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:613561
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis	OMIM:612847
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Severe short stature, Flared, irregular rib ends	ORPHA:168555
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Anterior rib cupping, Splenomegaly, Disproportionate short-trunk short...	OMIM:602271
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Idiopathic Intracranial Hypertension	Back pain, Lethargy, Obesity, Depression	ORPHA:238624
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Muscle Filaminopathy	Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b...	ORPHA:171445
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Scoliosis	ORPHA:85174
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive	ORPHA:26
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Short stature	OMIM:617974
Second Metatarsal-Metacarpal Syndrome	Platyspondyly	OMIM:269630
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Lethargy, Cardiomegaly	OMIM:619064
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Short stature, Hypoplasia of the odontoid process	ORPHA:85172
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Lethargy	ORPHA:254857
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Spondylometaphyseal Dysplasia, Type A4	Severe short stature, Ovoid vertebral bodies, Enlargement of the costochondral junction, Platyspo...	OMIM:609052
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	OMIM:614025
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate...	ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Osteoporosis of vertebrae, Short stature, Platyspondyly	OMIM:156510
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618228
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospon...	ORPHA:85198
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr...	OMIM:264180
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Small for gestational age	OMIM:610498
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature	ORPHA:2786
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Glutaric Acidemia Type 3	Lethargy, Sacral dimple, Failure to thrive	ORPHA:35706
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Short stature, Severe short statur...	ORPHA:99642
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio...	OMIM:234250
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Proportionate short stature	ORPHA:93283
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:613982
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Short stature	OMIM:271600
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Lethargy	OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Cardiomegaly	OMIM:300886
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Failure to thrive, Lethargy, Scoliosis	OMIM:201470
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hypertrophic ca...	OMIM:212140
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Anterior rib punctate calcifications, Abnormal form of...	ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Disproportionate sho...	OMIM:602557
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy	OMIM:246900
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Lethargy, Ventricular septal defect, Short stature	ORPHA:49827
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Small for gestational age, Short neck, Cardiomegaly, Postnatal growth retardation,...	OMIM:613320
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Pericardial effusion, Cardiomegaly, La...	OMIM:239850
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Lethargy	ORPHA:28
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o...	OMIM:184100
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly	OMIM:600649
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Severe short stature, Thoracolumbar scoliosis	OMIM:313420
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Short neck, Platyspondyly, Intrauterine growth retardation, Failure to thrive	OMIM:618958
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetr...	OMIM:252920
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Lethargy	OMIM:500007
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Hyperlordosis, Short neck, Disproportionate short stature, Hepatosplenomega...	ORPHA:93352
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Cardiomyopathy, Lethargy, Failure to thrive	ORPHA:79312
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Dispropo...	OMIM:619698
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio...	OMIM:313400
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,...	OMIM:156530
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Hepatomegaly, Failure to thrive, Lethargy	OMIM:618226
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ...	OMIM:620135
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Ogden Syndrome	Postnatal growth retardation, Lethargy, Ventricular septal defect, Scoliosis	ORPHA:276432
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss, Depression	ORPHA:178029
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Scoliosis, Intrauterine growth retardation, Failure to thrive, Leth...	ORPHA:2169
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age	ORPHA:276556
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy, Short stature	OMIM:618120
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Failure to thrive, Lethargy, Hepatomegaly	ORPHA:2394
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Ventricular septal defect, Short neck, Abnormal rib morphology, Platyspondyly	ORPHA:93267
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Atrial septal defect, Lethargy, Failure to thrive, Horizontal ribs	OMIM:614857
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Small for gestational age, Short ribs, Lethargy, Failure to thrive, Patent foramen ov...	OMIM:607143
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Lethargy, Hypertrophic cardio...	ORPHA:3282
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f...	OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis	OMIM:259440
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age	ORPHA:276575
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Short stature, Scoliosis, Thin ribs	OMIM:615220
Developmental And Epileptic Encephalopathy 41	Lethargy, Kyphoscoliosis	OMIM:617105
Osteogenesis Imperfecta, Type V	Platyspondyly, Short stature, Biconcave vertebral bodies, Vertebral wedging	OMIM:610967
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age	ORPHA:276580
Geroderma Osteodysplastica	Severe short stature, Vertebral compression fracture, Abnormal form of the vertebral bodies, Grow...	ORPHA:2078
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Platyspondyly, Mitral valve prolapse	ORPHA:90653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Severe short stature, Rhizomelia	OMIM:619598
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Failure to thrive, Moderately short stature	ORPHA:157965
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Platyspondyly, Sco...	OMIM:608940
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Mild pos...	ORPHA:168549
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Lethargy, Cardiomegaly	ORPHA:42
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom...	OMIM:300280
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Severe Canavan Disease	Lethargy	ORPHA:314911
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short stature, Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:618395
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase...	ORPHA:90041
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Rhizomelia, Short stature, Small for gestational age, Beaded ribs, Platys...	OMIM:616229
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Short stature	ORPHA:71267
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Ventricular septal defect, Small for gestational age, Short neck, Cardiom...	OMIM:616897
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,...	OMIM:609616
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly	OMIM:184840
Thanatophoric Dysplasia, Type Ii	Wide-cupped costochondral junctions, Platyspondyly, Short ribs, Neonatal death, Lethal short-limb...	OMIM:187601
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Osteogenesis Imperfecta, Type Xi	Short stature, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebra...	OMIM:610968
Autosomal Recessive Stickler Syndrome	Irregular vertebral endplates, Platyspondyly, Short stature	ORPHA:250984
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di...	ORPHA:85194
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive	OMIM:611523
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pl...	OMIM:184250
Dihydropyrimidinase Deficiency	Growth delay, Lethargy	OMIM:222748
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,...	OMIM:253000
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Severe short stature	ORPHA:2619
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Lethargy, Large for gestational age	ORPHA:324575
Pyle Disease	Platyspondyly, Scoliosis	OMIM:265900
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Disproportio...	OMIM:271650
Bruck Syndrome 1	Short stature, Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis	OMIM:259450
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Obesity, Irregular vertebral endplates, Platyspondyly...	ORPHA:174
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Increased body weight	ORPHA:276608
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Vacterl Association With Hydrocephalus	Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal heart mo...	OMIM:276950
Propionic Acidemia	Hepatomegaly, Short stature, Cardiomyopathy, Lethargy, Failure to thrive	OMIM:606054
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Small for gestational age	OMIM:312170
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Short stature, Thoracic platyspondyly, Growth delay, Abnormal ...	ORPHA:166011
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive, Short stature, Hepatosplenomegaly	OMIM:611590
Dysosteosclerosis	Ventricular septal defect, Short stature, Hypoplastic vertebral bodies, Irregular vertebral endpl...	ORPHA:1782
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia	OMIM:601438
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Lethargy, Hypertrophic cardiomyopathy	ORPHA:254913
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Hypoplastic vertebral bod...	ORPHA:2347
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Failure to thrive in infancy, Cardiomegaly	ORPHA:858
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ...	OMIM:156500
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Cardiomegaly	OMIM:255120
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, H...	OMIM:614702
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Short ribs, Beaking of vertebral bodies, ...	OMIM:618961
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Abnormality of the vertebral endplates, Platyspondyly, Disproportionate short stature, Ovoid vert...	ORPHA:1856
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive	ORPHA:349
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ...	ORPHA:2655
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Failure to thrive	OMIM:236270
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Thin ribs, Platyspondyly, Intrauterine growth retard...	OMIM:300863
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies...	OMIM:230000
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Hepatomegaly, Lethargy	ORPHA:289916
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ...	OMIM:612561
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Hypophosphatasia, Infantile	Vertebral clefting, Platyspondyly, Stillbirth, Disproportionate short-limb short stature, Unossif...	OMIM:241500
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ...	ORPHA:1517
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Stillbirth, Neonatal death, Lethargy	OMIM:614922
Attrv30M Amyloidosis	Cardiomyopathy, Weight loss, Cardiomegaly	ORPHA:85447
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ...	ORPHA:750
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Abnormal rib...	ORPHA:582
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Kyphosis, Splenomegaly, Growth delay, Delayed puberty, Abnorm...	ORPHA:77259
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula...	ORPHA:567548
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Lethargy, Hepatomegaly	ORPHA:27
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco...	ORPHA:1159
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Failure to thrive, Lethargy	OMIM:238970
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Lethargy	OMIM:614299
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly	OMIM:201475
Bruck Syndrome	Kyphosis, Platyspondyly, Short stature, Scoliosis	ORPHA:2771
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Anterior rib cupping, Short neck, Platyspondyly, Stillbirth, Disproportio...	OMIM:269250
Methylmalonic Acidemia With Homocystinuria Type Cblf	Abnormal heart morphology, Growth delay, Intrauterine growth retardation, Failure to thrive, Leth...	ORPHA:79284
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive, Short stature	ORPHA:2089
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Weight loss, Cardiomyopathy, Apathy, Lethargy	ORPHA:465508
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy	ORPHA:156
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Myofiber disarray	OMIM:604377
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Failure to thrive, Lethargy	ORPHA:927
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Abnormal heart morphology	ORPHA:531151
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Failure to thrive, Lethargy, Hepatomegaly	OMIM:251000
Thanatophoric Dysplasia, Type I	Short neck, Wide-cupped costochondral junctions, Platyspondyly, Disproportionate short-limb short...	OMIM:187600
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Platyspondyly, Thoracic kyphosis	OMIM:619638
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Platyspondyly, Cervical sublu...	OMIM:607095
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Abnormal heart ...	OMIM:253220
Geroderma Osteodysplasticum	Severe short stature, Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplat...	OMIM:231070
Classic Galactosemia	Hepatomegaly, Depression, Lethargy, Delayed puberty	ORPHA:79239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Small for gestational age, Pericardial effusion, Overwei...	ORPHA:26793
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Short stature, Dextrocardia, Small for gestational age, Atrial septal defect, Letha...	OMIM:277380
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Riboflavin Deficiency	Lethargy	OMIM:615026
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia, Hepatosplenomegaly	ORPHA:79237
Thanatophoric Dysplasia Type 2	Atrial septal defect, Kyphosis, Platyspondyly, Short stature	ORPHA:93274
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Beaking o...	OMIM:618641
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Smith-Mccort Dysplasia 1	Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Short neck, Wafer-thin platyspond...	OMIM:151210
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyly, Disproportionate short-limb short st...	OMIM:608728
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Increased intervertebral spac...	ORPHA:93314
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Atrial septal defec...	ORPHA:398069
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Hepatomegaly, Lethargy, Thin ribs	OMIM:617397
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Short stature	ORPHA:319195
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	OMIM:269920
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy...	ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Severe short stature, Scoliosis	OMIM:126550
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri...	OMIM:253250
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia, Epistaxis	ORPHA:90042
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension	ORPHA:401923
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Beaded ribs, Thin ribs, Platyspondyly, Disproportionate short-limb sho...	OMIM:166210
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Cervical kyphosis, Proportionate short stature, Postnatal growth retar...	ORPHA:79345
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Odontochondrodysplasia	Platyspondyly, Short stature, Scoliosis	ORPHA:166272
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Cervical instability, Abnormally ossified vertebrae, Abnormal vertebral morphology, Platyspondyly	ORPHA:93346
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Failure to thrive, Dilated cardiomyopathy, Small for gestational age	OMIM:609015
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar...	OMIM:230600
Gaucher Disease, Type I	Splenomegaly, Hepatomegaly, Aortic valve stenosis, Vertebral compression fracture	OMIM:230800
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Weight loss	ORPHA:79242
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Failure to thrive	OMIM:605711
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Smith-Mccort Dysplasia 2	Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh...	OMIM:615222
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Citrullinemia Type I	Lethargy, Failure to thrive	ORPHA:247525
Laron Syndrome	Hypercholesterolemia	ORPHA:633
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ...	ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Pyruvate Dehydrogenase Deficiency	Growth delay, Intrauterine growth retardation, Lethargy	ORPHA:765
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Short stature, Scoliosis	ORPHA:2107
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Dilated cardiomyopathy, Intrauterine growth retardation, Hypertrophi...	ORPHA:71212
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiomyopathy, Lethargy, Hepatomegaly	OMIM:212138
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short stature, Kyphoscoliosis, Moderately short stature, Irregular vertebral endplates, Platyspon...	OMIM:612350
Typhoid	Splenomegaly, Hepatomegaly, Lethargy	ORPHA:99745
Spondyloocular Syndrome	Short stature, Mitral valve prolapse, Platyspondyly, Decreased body weight, Atrial septal defect,...	OMIM:605822
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Necrotizing Enterocolitis	Lethargy, Small for gestational age, Abnormal heart morphology	ORPHA:391673
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Irregular sclerotic endplates, Platyspondyly, Flared, irregular rib ends, Pear-shaped...	OMIM:602111
Gm1 Gangliosidosis	Ventricular septal defect, Short stature, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of...	ORPHA:354
Stickler Syndrome, Type I	Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr...	OMIM:108300
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs	OMIM:617952
Fibrochondrogenesis 2	Cupped ribs, Platyspondyly, Short ribs	OMIM:614524
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Odontochondrodysplasia 1	Biconvex vertebral bodies, Short stature, Coronal cleft vertebrae, Platyspondyly, Mesomelic short...	OMIM:184260
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Abnormal rib morphology, Disproportionate short-limb short stature	ORPHA:93351
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short stature, Rhizomelia, Thin ribs, Platyspondyly, ...	OMIM:613848
Fibrochondrogenesis 1	Rhizomelia, Anterior rib cupping, Short neck, Thin ribs, Posterior rib cupping, Platyspondyly, St...	OMIM:228520
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Thin ribs, Platyspondyly, Intrauterine growth retardation	ORPHA:163966
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Large for gestational age, Postnatal growth...	ORPHA:254534
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou...	ORPHA:231222
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev...	ORPHA:93672
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Splenomegaly, Lethargy, Failure to thrive	OMIM:201100
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Disproportionate short-trunk shor...	OMIM:184252
Mycetoma	Back pain, Vertebral compression fracture, Abnormal form of the vertebral bodies	ORPHA:2583
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Failure to thrive	OMIM:615838
Cole-Carpenter Syndrome 1	Vertebral compression fracture, Short stature, Scoliosis	OMIM:112240
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short...	OMIM:620076
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, Broad ...	OMIM:617022
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Sim1-Related Prader-Willi-Like Syndrome	Obesity, Abdominal obesity, Scoliosis, Lethargy, Failure to thrive	ORPHA:398079
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Ollier Disease	Platyspondyly	ORPHA:296
Scrub Typhus	Splenomegaly, Myocarditis, Lethargy	ORPHA:83317
Dyggve-Melchior-Clausen Disease	Severe short stature, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality of ...	ORPHA:239
Desbuquois Dysplasia 1	Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ...	OMIM:251450
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility	OMIM:208230
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Bic...	OMIM:259770
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho...	ORPHA:412
Pseudoachondroplasia	Lumbar hyperlordosis, Spatulate ribs, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly...	OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the ver...	ORPHA:93360
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Cervical spinal canal stenosis	OMIM:620232
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Cardiomyopathy, Failure to thrive in infancy, Lethargy	ORPHA:746
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Thin ribs, Platyspondyly	OMIM:616294
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Increased body weight, Lethargy, Large for gestational age	ORPHA:263455
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:237300
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Anisospondyly	ORPHA:163649
Bruck Syndrome 2	Platyspondyly, Short stature	OMIM:609220
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Schwartz-Jampel Syndrome, Type 1	Lumbar hyperlordosis, Short stature, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft...	OMIM:255800
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral...	ORPHA:93315
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly	OMIM:601356
Osteogenesis Imperfecta, Type Xvii	Vertebral compression fracture, Short stature, Platyspondyly, Kyphoscoliosis	OMIM:616507
Osteogenesis Imperfecta, Type Xx	Intrauterine growth retardation, Vertebral compression fracture, Disproportionate short-limb shor...	OMIM:618644
Renal Hypoplasia, Bilateral	Short stature, Small for gestational age, Growth delay, Lethargy, Failure to thrive	ORPHA:97362
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Disproportionate short stature, ...	ORPHA:1427
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Disproportionate short-limb short stature, Scoliosis	OMIM:619131
Isolated Complex I Deficiency	Hepatomegaly, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Failure to thrive, Le...	ORPHA:2609
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect, Lethal short...	ORPHA:1860
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:300232
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy	OMIM:618348
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney	OMIM:608836
Insulinoma	Lethargy, Increased body weight	ORPHA:97279
Neuraminidase Deficiency	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Osteogenesis Imperfecta, Type Xiii	Short stature, Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight	OMIM:614856
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Flaring of lower rib cage, Short neck, Postnatal growth retardation, Hypopl...	OMIM:223800
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Osteogenesis Imperfecta, Type Viii	Kyphosis, Thin ribs, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebr...	OMIM:610915
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Short stature, Coronal cleft vertebrae, Platyspondyly, Beaking of vertebral...	OMIM:215150
Isovaleric Acidemia	Lethargy	OMIM:243500
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Cardiomegaly	OMIM:620306
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Kyphoscoliosis, Disproportionate short-trunk short stature, Platyspondyly, ...	ORPHA:93316
Resistance To Thyrotropin-Releasing Hormone Syndrome	Growth delay, Lethargy, Overweight, Depression	ORPHA:99832
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Vertebral compression fracture	OMIM:602080
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Optic atrophy	OMIM:619576
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen...	OMIM:300972
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Rhizomelia, Short neck	OMIM:612813
Semilobar Holoprosencephaly	Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ...	ORPHA:220386
Kniest Dysplasia	Short neck, Hypoplasia of the odontoid process, Disproportionate short stature, Disproportionate ...	ORPHA:485
Alobar Holoprosencephaly	Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ...	ORPHA:93924
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mitral valve prolapse, Lethargy, Failure to thrive, Right atrial enlargement	OMIM:620233
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive	OMIM:210200
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Severe short stature, Thoracolumbar kyphoscoliosis, Platyspondyly	OMIM:618853
Hajdu-Cheney Syndrome	Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodie...	OMIM:102500
Sillence Syndrome	Back pain, Slender build, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral...	ORPHA:3168
Schimke Immunoosseous Dysplasia	Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Disproportio...	OMIM:242900
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Lethargy	OMIM:201450
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Thin ribs, Lumbar hemivertebrae, Cardiomegaly	ORPHA:2463
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Hepatosplenomeg...	OMIM:614866
Diamond-Blackfan Anemia	Ventricular septal defect, Short stature, Small for gestational age, Short neck, Abnormal heart m...	ORPHA:124
Saul-Wilson Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the odontoid process, Irregular verteb...	OMIM:618150
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Spinal rigidity, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Postnatal growth retardation, Anterior scalloping of vertebral bodies, Cuboid-shaped ...	OMIM:611717
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Lethargy, Hepatomegaly	ORPHA:159
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Small for gestational age, Short nec...	ORPHA:1830
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,...	OMIM:616482
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Kniest Dysplasia	Rhizomelia, Short neck, Disproportionate short-trunk short stature, Coronal cleft vertebrae, Plat...	OMIM:156550
Evans Syndrome	Lethargy	ORPHA:1959
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Lethargy, Dilated cardiomyopathy	OMIM:618321
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Weight loss, Apathy, Lethargy	ORPHA:20
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	11 pairs of ribs, Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Short neck, Mit...	OMIM:245600
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t...	OMIM:252500
Greenberg Dysplasia	11 pairs of ribs, Hepatomegaly, Rhizomelia, Beaded ribs, Costal cartilage calcification, Punctate...	OMIM:215140
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy, Decreased body weight, Neon...	OMIM:608013
Desbuquois Dysplasia 2	Severe short stature, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Truncal obe...	OMIM:615777
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thoracic platyspondyly, Enla...	OMIM:619636
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Dilated cardiomyopathy, Depression, Bradykinesia, Left ventricular hy...	ORPHA:254892
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Medulloblastoma	Back pain, Lethargy	ORPHA:616
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, Platyspondyly, ...	ORPHA:79255
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphoscoliosis, Platyspondyly	OMIM:184253
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebr...	OMIM:226980
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Failure to thrive, Lethargy	OMIM:251110
Multicentric Osteolysis, Nodulosis, And Arthropathy	Short stature, Kyphoscoliosis, Mitral valve prolapse, Vertebral compression fracture, C1-C2 sublu...	OMIM:259600
Dengue Fever	Hepatomegaly, Lethargy	ORPHA:99828
Atelosteogenesis Type I	Rhizomelia, Coronal cleft vertebrae, Platyspondyly, Neonatal short-trunk short stature, Scoliosis...	ORPHA:1190
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Hypercholesterolemia, Papilledema, Rod-cone dystrophy	OMIM:619471
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular ...	ORPHA:261250
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hypertension, ...	ORPHA:79259
Lowry-Wood Syndrome	Platyspondyly, Short stature	ORPHA:1824
Transcobalamin Ii Deficiency	Hepatomegaly, Failure to thrive, Lethargy	OMIM:275350
Familial Hypoaldosteronism	Growth delay, Lethargy, Failure to thrive	ORPHA:427
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Abnormal heart morphology, Growth delay, Intrauterine growth retardation,...	ORPHA:79282
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syn...	OMIM:127550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Short stature, Kyphoscoliosis, Cervical spine instability, Platyspondyly, Decreased body weight	OMIM:615349
Dysosteosclerosis	Increased intervertebral space, Disproportionate short stature, Hypoplastic vertebral bodies, Irr...	OMIM:224300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Short stature, Kyphoscoliosis, Short neck, Scoliosis, Vertebral compression fracture	OMIM:309583
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Disproportionate short-limb short stature	ORPHA:85166
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Cervical instability, Thoracolumba...	OMIM:617425
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Sh...	ORPHA:457395
Czech Dysplasia	Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ...	OMIM:609162
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad...	ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Cardiomegaly	OMIM:618838
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short stature, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis	OMIM:616723
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Cardiomegaly	OMIM:618798
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:99931
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy	OMIM:229700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Abnormal rib morphology, Rhizomelic arm shortening, ...	ORPHA:93317
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg...	ORPHA:363618
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Short neck, Overweight, Growth delay, Lethargy, Decreased cervical spine mobi...	ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Splenomegaly, Concentric hypertrophic cardiomyopathy, Growth delay, Lethargy, Hyper...	OMIM:252010
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Failure to thrive, Lethargy	OMIM:251100
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Intrauterine growth retardation, Platyspondyly, Scoliosis	OMIM:612394
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Dilatation of the ventricular cavi...	ORPHA:2177
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Meningococcal Meningitis	Lethargy	ORPHA:33475
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Maple Syrup Urine Disease	Lethargy	OMIM:248600
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Short ribs, Vertebral wedging, Missing ribs	OMIM:617866
Cog1-Cdg	Irregularity of vertebral bodies, Failure to thrive, Rhizomelia, Kyphoscoliosis, Short neck, Post...	ORPHA:263508
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ve...	ORPHA:79330
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Hypertension	ORPHA:69663
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret...	OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Lethargy	OMIM:215700
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Disproportion...	OMIM:271510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Kyphosc...	OMIM:271640
Multiple Myeloma	Splenomegaly, Vertebral compression fracture, Weight loss	ORPHA:29073
Osteogenesis Imperfecta	Abnormal endocardium morphology, Multiple rib fractures, Short stature, Cervical kyphosis, Rhizom...	ORPHA:666
Atelosteogenesis, Type I	11 pairs of ribs, Rhizomelia, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coron...	OMIM:108720
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive	OMIM:210210
Opsismodysplasia	Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Hypoplastic ver...	OMIM:258480
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Lumbar kyphosis in infancy, Neonatal short-limb short stature, ...	OMIM:100800
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Postnatal growth retardation, ...	ORPHA:536467
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Short stature, Small for gestational age, Short neck...	OMIM:139210
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Weight loss	ORPHA:199299
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis	ORPHA:85167
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Obesity, Growth delay, Platyspondyly, Scoliosis	OMIM:619269
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Lethargy	OMIM:253260
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body	OMIM:618476
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Osteogenesis Imperfecta, Type Iv	Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Failure to thrive	ORPHA:395
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebral space, Irregular ve...	OMIM:607944
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Optic atrophy	OMIM:618590
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Porphyria, Congenital Erythropoietic	Splenomegaly, Hepatomegaly, Vertebral compression fracture, Short stature	OMIM:263700
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Lethargy	OMIM:207900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo...	ORPHA:500
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Scoliosis, Cardiomegaly	OMIM:618143
Trisomy 20P	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy...	ORPHA:261318
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H...	ORPHA:391665
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Depression, Cardiomegaly	OMIM:619259
Myhre Syndrome	Severe short stature, Abnormal rib morphology, Platyspondyly, Abnormal cardiac septum morphology,...	ORPHA:2588
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Rhizomelia, Short neck, Myocarditis, Cupped ribs, Disproportionate short statur...	OMIM:250220
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Anemia, Hypokalemia, Hyperaldosteronism, Hy...	ORPHA:534
Hereditary Fructose Intolerance	Growth delay, Hepatomegaly, Lethargy	ORPHA:469
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Failure to thrive	OMIM:277400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Glycerol Kinase Deficiency	Growth delay, Lethargy, Short stature, Small for gestational age	OMIM:307030
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:581
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Gro...	OMIM:614921
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,...	OMIM:260400
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency	OMIM:619322
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Failure to thrive, Small for gestational age, Lethargy	OMIM:557000
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:311250
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Congenital kyphoscoliosis, Abnormal heart valve morphology, Short st...	ORPHA:536471
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Failure to thrive, Lethargy	ORPHA:415
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Anterior rib cupping, Splenomegaly, Platyspondyly, Failure to thrive	OMIM:102700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hyperlordosis, Cardiomegaly, Scoliosis, Left ventricular hypertrophy, Hypertrophic ...	ORPHA:365
Encephalitis Lethargica	Lethargy	ORPHA:83600
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Failure to...	ORPHA:308552
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Cirrhosis, Familial	Lethargy	OMIM:215600
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly, Short stature, Disproportionate short-trunk short stature	ORPHA:1855
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Short stature, Increased intervertebral space, Platyspondyly, Broad ribs	OMIM:619727
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short stature, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spin...	ORPHA:800
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Platyspondyly, Short ribs, Atrial septal defect, Horizontal ribs	OMIM:263520
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Rhizomelia, Short stature, Scoliosis, Vertebral compression fracture	OMIM:610682
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Optic nerve hypoplasia, Right bundle branch block, Mitral regurgitation,...	OMIM:617506
Kyphomelic Dysplasia	Platyspondyly, Disproportionate short stature, Undulate ribs, Anterior rib cupping	OMIM:211350
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Cholera	Lethargy	ORPHA:173
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly	ORPHA:158687
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Marburg Hemorrhagic Fever	Back pain, Lethargy, Pericarditis	ORPHA:99826
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy	OMIM:118450
Trichinellosis	Lethargy, Apathy	ORPHA:863
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Lethargy	ORPHA:68
Abetalipoproteinemia	Hepatomegaly, Failure to thrive, Kyphoscoliosis, Cardiomegaly	ORPHA:14
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Failure to thrive, Ventricular septal defect, Short neck, Muscular ventricular ...	OMIM:210710
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, ...	ORPHA:416
Cushing Disease	Increased body weight, Depression, Truncal obesity, Abdominal obesity, Vertebral compression frac...	ORPHA:96253
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Mitral valve ...	OMIM:602782
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormal hemoglobin, Anemia	ORPHA:847
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Short stature, Small for gestational age, Abnormal h...	OMIM:612289
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Pig...	OMIM:606721
Stickler Syndrome	Short stature, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, ...	ORPHA:828
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Short stature, Cardiomegaly	OMIM:208000
Marshall Syndrome	Platyspondyly, Short stature	OMIM:154780
Biotinidase Deficiency	Lethargy	ORPHA:79241
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia	ORPHA:373
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Osteoglophonic Dysplasia	Severe short stature, Rhizomelia, Short neck, Growth delay, Platyspondyly, Failure to thrive	OMIM:166250
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Aspartylglucosaminuria	Hepatomegaly, Short stature, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb...	OMIM:208400
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Neonatal short-limb short stature, Rhizomelia, Short ribs	ORPHA:50945
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Alpha-Mannosidosis, Infantile Form	Thickened ribs, Short neck, Hepatosplenomegaly, Depression, Platyspondyly	ORPHA:309282
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Aicardi-Goutières Syndrome	Short stature, Cardiomegaly, Hepatosplenomegaly, Scoliosis, Hypertrophic cardiomyopathy	ORPHA:51
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Intrauterine...	ORPHA:96191
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morphology, Atrial...	ORPHA:980
Fructose Intolerance, Hereditary	Hepatomegaly, Failure to thrive, Lethargy	OMIM:229600
Bohring-Opitz Syndrome	Short stature, Cardiomegaly, Abnormal cardiac septum morphology, Severe failure to thrive, Intrau...	ORPHA:97297
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Atlantoaxial instability, P...	OMIM:271665
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly	ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Short neck, Irregular vertebral endplates, Platyspondyly, Posterior scalloping of ...	OMIM:610442
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, Vertebral segmentatio...	ORPHA:904
Otopalatodigital Syndrome, Type Ii	Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Platyspondyly, Stillbirt...	OMIM:304120
Sponastrime Dysplasia	Lumbar hyperlordosis, Rhizomelia, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebra...	ORPHA:93357
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive	OMIM:618278
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Scoliosis, S...	OMIM:182250
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs	OMIM:225400
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Occipital Horn Syndrome	Growth delay, Kyphosis, Platyspondyly, Broad ribs	OMIM:304150
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Lethargy	OMIM:218700
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss, Depression	ORPHA:652
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short stature, Short neck, Secundum atrial septal defect, Subarterial ventricular septal defect, ...	ORPHA:99646
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cardiomyopa...	ORPHA:3472
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ...	OMIM:300106
Glycine Encephalopathy	Lethargy	ORPHA:407
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:617403
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Vertebral com...	ORPHA:99889
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Kyphosis, Growth delay, Platyspondyly, Abnormality of the vertebral column,...	ORPHA:2273
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Atrial septal defect, Intrauterine growth r...	OMIM:617190
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Myocar...	ORPHA:51608
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block	OMIM:617402
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Growth delay, Failure to thrive	OMIM:256040
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Pineoblastoma	Lethargy	ORPHA:251909
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Obesity, Hypertrophic cardio...	ORPHA:116
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Pmm2-Cdg	Pericarditis, Kyphoscoliosis, Pericardial effusion, Platyspondyly, Hypertrophic cardiomyopathy, F...	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}	HET		Early adult
Eye - MPATH pathological process term dysplasia	Asxl2^{tm1b(EUCOMM)Hmgu}	HOM		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 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer.	Cancer discovery (December 2022)	Asxl2^{tm1c(EUCOMM)Hmgu}	36108220
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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Eye Morphology

Human diseases caused by Asxl2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data