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Gene: L3mbtl3 MGI:2143628

Gene Summary

Name:

L3MBTL3 histone methyl-lysine binding protein

Synonyms:

MBT-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal craniofacial morphology	L3mbtl3^em2(IMPC)Tcp	HOM	E15.5	0.00
abnormal embryo size	L3mbtl3^em2(IMPC)Tcp	HOM	E15.5	0.00
polydactyly	L3mbtl3^em2(IMPC)Tcp	HOM	E15.5	0.00
edema	L3mbtl3^em2(IMPC)Tcp	HET	E15.5	0.00
abnormal skin morphology	L3mbtl3^em2(IMPC)Tcp	HET	Early adult	0.00
edema	L3mbtl3^em2(IMPC)Tcp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	L3mbtl3^em2(IMPC)Tcp	HOM	Early adult	0.00
increased circulating triglyceride level	L3mbtl3^em2(IMPC)Tcp	HET	Early adult	2.17×10^-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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Histopathology

Images

1 Images

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Human diseases caused by L3mbtl3 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 L3mbtl3 (0 diseases)
Human diseases predicted to be associated with L3mbtl3 (512 diseases)

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

The table below shows human diseases predicted to be associated to L3mbtl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Lipedema	Edema	OMIM:614103
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Angioedema, Hereditary, 5	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619361
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M...	ORPHA:2133
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele, Oligohydramnios	OMIM:615397
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Nephronophthisis	Anemia	ORPHA:655
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly	ORPHA:294975
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Macular Dystrophy, Dominant Cystoid	Edema, Cystoid macular edema	OMIM:153880
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Congenital Atransferrinemia	Anemia	ORPHA:1195
White Sponge Nevus 2	Edema	OMIM:615785
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:607616
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:237800
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:187800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Lymphatic Malformation 9	Predominantly lower limb lymphedema	OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Lymphedema And Cerebral Arteriovenous Anomaly	Lymphedema	OMIM:152900
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Lymphedema, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Ta...	OMIM:607131
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Brachydactyly, Polyhydramnios, Postaxial polydactyly	OMIM:615633
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala...	OMIM:617926
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident ...	OMIM:614815
Nephronophthisis 15	Polydactyly	OMIM:614845
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul...	OMIM:615234
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v...	OMIM:616860
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Hydrops fetalis, Short long bone, Flat acetabular roof, Ascites, Bowing of the long ...	OMIM:614091
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei...	OMIM:205400
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Encephalocele, Pericardial effusion, Talipes equinovarus	OMIM:613885
Yellow Nail Syndrome	Lymphedema, Predominantly lower limb lymphedema	OMIM:153300
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Syndactyly, Intrauteri...	ORPHA:397590
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom...	OMIM:235700
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:607361
Orthostatic Hypotension 2	Anemia	OMIM:618182
Spherocytosis, Type 2	Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis...	OMIM:224120
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly	OMIM:615996
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:620603
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda...	OMIM:258860
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:267700
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612653
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Polyhydramnios, Femoral bowing, Short long bone, Acetabular spurs, Postaxia...	OMIM:615503
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger	ORPHA:231140
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Intrauterine growth r...	OMIM:618142
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Joubert Syndrome 23	Polydactyly	OMIM:616490
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Rh Deficiency Syndrome	Macrocytic anemia, Miscarriage, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepato...	ORPHA:71275
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Lymphedema, Finger aplasia, Hand polydactyly, Syndactyly	OMIM:149000
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly	OMIM:602501
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia...	OMIM:169400
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl...	OMIM:619721
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Oslam Syndrome	Anemia	OMIM:165660
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98855
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel...	OMIM:617866
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Joubert Syndrome 27	Polydactyly	OMIM:617120
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Macrophage Activation Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir...	ORPHA:158061
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98853
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y...	OMIM:277170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy...	OMIM:617895
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ...	OMIM:603553
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Pallister-Hall Syndrome	Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Y-shaped metatarsals, Oli...	OMIM:146510
Chromosome 3Pter-P25 Deletion Syndrome	Intrauterine growth retardation, Overlapping toe, Tapered finger, Postaxial polydactyly	OMIM:613792
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Polyhydramnios, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transv...	OMIM:612651
Suleiman-El-Hattab Syndrome	Polydactyly, Single transverse palmar crease, Clinodactyly, Brachydactyly	OMIM:618950
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Oligohydramnios, Postaxial polydactyly	OMIM:615824
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Broad hallux, Congenital pseudoa...	ORPHA:435638
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia	OMIM:105600
Meckel Syndrome 14	Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Increased nuchal t...	OMIM:619879
Houge-Janssens Syndrome 2	Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia	OMIM:616362
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration	ORPHA:540
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnorma...	OMIM:302960
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Death in childhood, Anemia, Acanthocytosis, Schistocytosis	OMIM:616457
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Congenital Sialidosis Type 2	Edema, Polydactyly, Ascites, Umbilical hernia	ORPHA:93400
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iil	Intrauterine growth retardation, Peau d'orange, Postaxial polydactyly, Hip dysplasia	OMIM:614576
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration	ORPHA:444490
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha...	ORPHA:90652
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev...	ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Rhombencephalosynapsis	Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finger syndactyly	ORPHA:59315
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Micromelia, Postaxial polydac...	OMIM:616546
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, 2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydac...	ORPHA:404440
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Polyhydramnios, Deep palmar crease, Clinodactyly of the 5th finger, Single transvers...	OMIM:247200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Polyhydramnios	OMIM:219730
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ...	ORPHA:2754
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
9Q21.13 Microdeletion Syndrome	Polydactyly, Hip dysplasia	ORPHA:531151
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia	ORPHA:275761
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Encephalocele...	OMIM:616300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Edema, ...	OMIM:617527
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys...	ORPHA:397715
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Joubert Syndrome 39	Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Bardet-Biedl Syndrome 1	Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ...	OMIM:209900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia	ORPHA:79259
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndactyly, Brachydactyly	OMIM:614099
Adnp Syndrome	Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn...	ORPHA:404448
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh...	ORPHA:2886
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric...	OMIM:203800
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia	ORPHA:158048
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia	ORPHA:167
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Arachnodactyly, Intrauterine growth r...	ORPHA:464306
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb...	ORPHA:221120
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Palmar pits, Spina bifida, Brachydactyly, Irregular ossificati...	OMIM:109400
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Int...	OMIM:210710
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Choanal Atresia	Polydactyly	ORPHA:137914
Joubert Syndrome 14	Postaxial polydactyly, Encephalocele, Meningocele	OMIM:614424
Bardet-Biedl Syndrome 20	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly	OMIM:619471
Orofaciodigital Syndrome V	Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Sandal gap	OMIM:174300
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short foot, Postaxial polydactyly, Hip dysplasia, Hip dislocation, Tapered finger, Small hand	OMIM:300968
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Radial deviation of finger, Anencephaly, Postaxial hand ...	OMIM:249000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Rubinstein-Taybi Syndrome 1	Polydactyly, Radial deviation of thumb terminal phalanx, Polyhydramnios, Broad distal phalanx of ...	OMIM:180849
Cranioectodermal Dysplasia 2	Polydactyly, Polyhydramnios, Hydrops fetalis, Rhizomelia, Postaxial hand polydactyly, Mesomelia, ...	OMIM:613610
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Mend Syndrome	Polydactyly, 2-3 toe syndactyly, Long fingers, Broad hallux, Overlapping toe, Overlapping fingers	OMIM:300960
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Short 2nd toe, Myelomeningocele, Syndactyly, Brachydacty...	OMIM:311200
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Prominent fingertip pads, S...	OMIM:615873
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Mesomel...	OMIM:619297
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Carpenter Syndrome 2	Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker...	OMIM:614976
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Polyhydramnios, Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydacty...	OMIM:617088
3Mc Syndrome 3	Preaxial polydactyly, Clinodactyly, Radioulnar synostosis	OMIM:248340
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal toe morphology, Intrauterine g...	ORPHA:268261
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit...	ORPHA:157
Pallister-Hall Syndrome	Short 4th metacarpal, Bilateral postaxial polydactyly, Polydactyly affecting the 4th finger, Poly...	ORPHA:672
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Abs...	OMIM:192350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla...	ORPHA:228308
Au-Kline Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Lipomyelomeningocele, Postaxial polydactyly, ...	OMIM:616580
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Degcags Syndrome	Polydactyly, Polyhydramnios, Genu valgum, Talipes equinovarus, Syndactyly, Short thumb, Intrauter...	OMIM:619488
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Monosomy 9Q22.3	Polydactyly, Palmar pits, Umbilical hernia	ORPHA:77301
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Rabson-Mendenhall Syndrome	Intrauterine growth retardation, Polydactyly	ORPHA:769
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger	ORPHA:137605
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Widened distal phalanges, Polyhydramnios, Deviation of the hallux, Broad distal phal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Widened distal phalanges, Polyhydramnios, Deviation of the hallux, Broad distal phal...	ORPHA:353277
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Short femur, Short humerus	ORPHA:17
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Khan-Khan-Katsanis Syndrome	Intrauterine growth retardation, Clinodactyly, Postaxial polydactyly	OMIM:618460
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:110
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postaxial hand polydactyly, Encephalocele	OMIM:605627
Charge Syndrome	Polydactyly, Polyhydramnios, Abnormal tibia morphology, Clinodactyly of the 5th finger, Bifid fem...	ORPHA:138
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Postaxial polydactyly, Clinodactyly of the 5th finger, Broad hallux, Hip dysplasia	ORPHA:457284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Hip dysplasia, Talipes e...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Hip dysplasia, Talipes e...	ORPHA:352665
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short finger, Polyhydramnios, Short greater sciatic notch, Broad to...	OMIM:312870
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis	OMIM:612731
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Loeys-Dietz Syndrome 2	Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Protrusio acetabul...	OMIM:610168
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t...	OMIM:607932
Stromme Syndrome	Preaxial polydactyly	OMIM:243605
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232220
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger	OMIM:301022
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Short foot, Slender finger, Congenital hip dislocation, Postaxial polydactyly, Hip dysplasia, Ove...	ORPHA:480880
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polydactyly, Polyhydramnios, Ascites, Generalized edema, Broad thumb, Postaxial polydactyly, Broa...	OMIM:619534
Okamoto Syndrome	Polydactyly, Oligohydramnios, Hip dysplasia	ORPHA:2729
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Loeys-Dietz Syndrome 1	Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Talipes equinov...	OMIM:609192
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Preaxial polydactyly, Postaxial hand polydactyly, Broad hallux	OMIM:615948
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia	ORPHA:324
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology	ORPHA:95494
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia	ORPHA:64
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

Histopathology

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

There is no histopathology data for L3mbtl3

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to L3mbtl3.

No publications found that use IMPC mice or data for L3mbtl3.

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MGI Allele	Allele Type	Produced
L3mbtl3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
L3mbtl3^em2(IMPC)Tcp	Exon Deletion	Mice, Tissue
L3mbtl3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: L3mbtl3 MGI:2143628

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

Histopathology

Human diseases caused by L3mbtl3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data