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Gene: Mdm4 MGI:107934

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transformed mouse 3T3 cell double minute 4

Synonyms:

Mdmx, 4933417N07Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mdm4 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 Mdm4 (1 diseases)
Human diseases predicted to be associated with Mdm4 (474 diseases)

The table below shows human diseases associated to Mdm4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bone Marrow Failure Syndrome 6		Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849

The table below shows human diseases predicted to be associated to Mdm4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus callosum	OMIM:600348
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis	OMIM:604416
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:618736
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:237800
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypothyroidism, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level	OMIM:226300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu...	OMIM:615934
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Glutamine Deficiency, Congenital	Subependymal cysts, Erythema, Lateral ventricle dilatation, Neonatal death	OMIM:610015
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Abcd Syndrome	Polycythemia	OMIM:600501
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus	OMIM:602200
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corp...	ORPHA:79243
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Intrauterine growth retardation, Lateral ventricle dilatation, Umbilica...	OMIM:617751
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:284417
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Ventriculomegaly, Lateral ventricle dilatation	OMIM:618291
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Hydrocephalus	OMIM:614219
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Hyperhidrosis, Thrombocytosis	ORPHA:71493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis	ORPHA:729
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Primary adrenal insufficiency, Splen...	ORPHA:2905
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
Breath-Holding Spells	Pallor	OMIM:607578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cach Syndrome	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:135
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Neonatal death	OMIM:614870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Thyro...	OMIM:212750
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Livedoid Vasculopathy	Graves disease, Polycythemia, Pancytopenia, Leukocytosis, Anemia	ORPHA:542643
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Hb Bart'S Hydrops Fetalis	Pallor, Hydrocephalus	ORPHA:163596
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Thrombocytosis, Anemia, Acute pancreatitis	ORPHA:20
Optic Atrophy 1	Pallor	OMIM:165500
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Pseudo-Torch Syndrome 2	Petechiae, Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis	ORPHA:134
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Hemoglobin D Disease	Pallor	ORPHA:90039
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Chromosome 6Q24-Q25 Deletion Syndrome	Intrauterine growth retardation, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus ...	OMIM:612863
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr...	OMIM:235700
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Umbilical hernia	OMIM:618914
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Hypothyroidism, Thrombocytosis	OMIM:212065
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Spherocytosis, Type 4	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:612653
Slc35A2-Cdg	Intrauterine growth retardation, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Th...	ORPHA:84064
Interstitial Lung And Liver Disease	Anemia, Hypothyroidism, Thrombocytosis	OMIM:615486
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor	OMIM:613561
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Immunodeficiency 115 With Autoinflammation	Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly	OMIM:620632
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Cog5-Cdg	Intrauterine growth retardation, Lateral ventricle dilatation, Premature skin wrinkling	ORPHA:263487
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Hyperhidrosis, Thromb...	ORPHA:1304
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Pancreatitis, Throm...	ORPHA:3260
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Hyperthyroidism, Thrombocytopenia, Neutrophilia, Leu...	ORPHA:870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
2,4-Dienoyl-Coa Reductase Deficiency	Colpocephaly, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	OMIM:616034
Fanconi Anemia, Complementation Group I	Colpocephaly, Intrauterine growth retardation, Pallor, Agenesis of corpus callosum	OMIM:609053
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:565624
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ventriculomegaly, Intrauterine growth retardation, Lateral ventricle di...	ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	ORPHA:300570
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Spherocytosis, Type 1	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:182900
Neuroleptic Malignant Syndrome	Leukocytosis, Hyperhidrosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Distal Deletion 10Q	Spina bifida occulta, Lateral ventricle dilatation	ORPHA:96148
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
Trichohepatoenteric Syndrome 1	Thrombocytosis, Decreased circulating antibody level, Splenomegaly, Increased mean platelet volume	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iig	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:611209
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Noonan Syndrome 14	Dry skin, Lateral ventricle dilatation	OMIM:619745
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Aicardi-Goutieres Syndrome 9	Dry skin, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:619487
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Weaver Syndrome	Ventriculomegaly, Cutis laxa, Lateral ventricle dilatation, Umbilical hernia	OMIM:277590
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Fumarase Deficiency	Polycythemia	OMIM:606812
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec...	OMIM:266200
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Bainbridge-Ropers Syndrome	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:615485
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial...	OMIM:304050
Dravet Syndrome	Pallor	ORPHA:33069
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus	OMIM:620371
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:464738
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia	ORPHA:309854
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Leukocytosis, Lymphocytosis...	ORPHA:514
Harderoporphyria	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:618892
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Irida Syndrome	Pallor	ORPHA:209981
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:620156
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ...	ORPHA:2968
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Ogden Syndrome	Thrombocytopenia, Polycythemia, Patent ductus arteriosus, Iron deficiency anemia	OMIM:300855
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	OMIM:619833
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:617557
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Cold Agglutinin Disease	Pallor	ORPHA:56425
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce...	OMIM:615219
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b...	OMIM:194380
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Prader-Willi Syndrome Due To Translocation	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:177907
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation,...	OMIM:618651
Von Hippel-Lindau Disease	Polycythemia, Pancreatic islet cell adenoma, Hyperhidrosis	ORPHA:892
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Kawasaki Disease	Leukocytosis, Thrombocytosis	ORPHA:2331
Myelofibrosis	Purpura, Pallor	OMIM:254450
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation	ORPHA:2822
Fructose-1,6-Bisphosphatase Deficiency	Ventriculomegaly, Pallor	ORPHA:348
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Dry skin, Intrauterine growth retardation, Agenesis of corpus callo...	OMIM:210710
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Hereditary Elliptocytosis	Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp...	ORPHA:288
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
American Trypanosomiasis	Pallor	ORPHA:3386
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Tay-Sachs Disease	Pallor	OMIM:272800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:615873
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short umbilical cord	OMIM:618367
Scalp-Ear-Nipple Syndrome	Dry skin, Lateral ventricle dilatation	OMIM:181270
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis	OMIM:232800
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Alg3-Cdg	Dandy-Walker malformation, Neural tube defect	ORPHA:79321
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Elliptocytosis 1	Pallor	OMIM:611804
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Splenomegaly, Hypothyroidism, Polycythemia	ORPHA:116
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation	OMIM:300868
Doors Syndrome	Congenital hypothyroidism, Thrombocytosis	ORPHA:79500
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Hyperhidrosis, Neutropenia, Throm...	ORPHA:2330
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Histiocytoid Cardiomyopathy	Pallor, Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor, Hydrocephalus	OMIM:277400
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Fanconi Anemia, Complementation Group D2	Prolonged G2 phase of cell cycle, Anemic pallor, Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Letterer-Siwe Disease	Pallor	OMIM:246400
Hereditary Chronic Pancreatitis	Recurrent pancreatitis, Leukocytosis	ORPHA:676
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:274150
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Dominant Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:231226
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Agenesis ...	OMIM:620113
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dilatation, Intrauterine growth...	ORPHA:500150
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Adenohypophysitis	Pallor	ORPHA:95512
Panhypophysitis	Pallor	ORPHA:95513
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Intrauterine growth retardation, Anemic pallor	OMIM:227645
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Brain abscess, Polycythemia	OMIM:600376
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:300896
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Anemic pallor	OMIM:600901
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Beta-Thalassemia Major	Pallor, Skin ulcer	ORPHA:231214
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Pituitary Apoplexy	Pallor	ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus	OMIM:147920
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus callosum	OMIM:607872
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Decreased proportion of naive T cells, Coombs-positive ...	ORPHA:83471
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Anemic pallor	OMIM:227650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Prolactinoma	Pallor	ORPHA:2965
Spondyloenchondrodysplasia	Ventriculomegaly, Abnormal lateral ventricle morphology	ORPHA:1855
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Pancreatitis, Schistocytosis, T...	ORPHA:90038
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Brain abscess, Polycythemia	OMIM:187300
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly	ORPHA:261250
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Autosomal Recessive Malignant Osteopetrosis	Pallor, Hydrocephalus	ORPHA:667
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:617260
Degcags Syndrome	Ventriculomegaly, Intrauterine growth retardation, Pallor, Agenesis of corpus callosum	OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Pallor, Hydrocephalus	OMIM:253280
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Neonatal death	OMIM:619534
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp...	OMIM:242840
Holoprosencephaly 13, X-Linked	Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly	OMIM:301043
Neuroblastoma	Anemic pallor	ORPHA:635
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Esophageal Atresia	Pallor	ORPHA:1199
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:309801
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum	OMIM:614866
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Khan-Khan-Katsanis Syndrome	Colpocephaly, Ventriculomegaly, Intrauterine growth retardation	OMIM:618460
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:618820
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Bloom Syndrome	Abscess, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T cell...	ORPHA:125
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261552
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Colpocephaly, Hydrocephalus, Partial agenesis of the corpus call...	OMIM:270400
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc...	OMIM:619381
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Schinzel-Giedion Syndrome	Ventriculomegaly, Choroid plexus cyst, Neural tube defect, Umbilical hernia	ORPHA:798
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93924
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:353277
Goodpasture Syndrome	Pallor	OMIM:233450
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

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 Mdm4

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 Mdm4.

No publications found that use IMPC mice or data for Mdm4.

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
Mdm4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mdm4^{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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