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Gene: Add1 MGI:87918

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adducin 1

Synonyms:

N/A

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 Add1 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 Add1 (1 diseases)
Human diseases predicted to be associated with Add1 (876 diseases)

The table below shows human diseases associated to Add1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypertension, Essential			OMIM:145500

The table below shows human diseases predicted to be associated to Add1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, Hypoglycorrhachia	OMIM:612126
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Thrombocytopenia	OMIM:615010
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Thrombocytopenia	ORPHA:1237
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Icf Syndrome	Communicating hydrocephalus, Lymphopenia, Anemia, Abnormality of neutrophils	ORPHA:2268
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure...	OMIM:611590
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Hy...	ORPHA:168577
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red...	OMIM:194380
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Increased CSF protein concentration	OMIM:612300
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis	OMIM:611804
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Nephronophthisis	Anemia	ORPHA:655
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Congenital Atransferrinemia	Anemia	ORPHA:1195
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hydrocephalus, Abnormal hemoglobin, Anemia	ORPHA:163596
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Coombs-positive he...	OMIM:304790
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Thrombocytopenia, Hydrocephalus, Anemia	ORPHA:858
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Hydrocephalus, Splenomegaly, N...	ORPHA:398124
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, Anemia	OMIM:615934
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Decreased CSF 5-methyltetr...	OMIM:613839
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia	ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Galactosemia I	Hemolytic anemia, Failure to thrive	OMIM:230400
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Failure to thrive, Anemia	OMIM:616457
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive	OMIM:212750
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Proteus-Like Syndrome	Communicating hydrocephalus, Splenomegaly, Hydrocephalus, Thymus hyperplasia	ORPHA:2969
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia	ORPHA:57
Lcat Deficiency	Hemolytic anemia	ORPHA:650
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ...	OMIM:610333
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Asplenia	OMIM:244400
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Interstitial Lung And Liver Disease	Thrombocytosis, Failure to thrive, Anemia	OMIM:615486
Methylcobalamin Deficiency Type Cble	Pancytopenia, Macrocytic anemia, Hydrocephalus, Increased mean corpuscular volume, Neutropenia, F...	ORPHA:2169
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c...	OMIM:301074
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615085
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Diamond-Blackfan Anemia 1	Macrocytic anemia, Failure to thrive, Congenital hypoplastic anemia, Reticulocytopenia, Persisten...	OMIM:105650
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia	OMIM:618213
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hypoglycorrhachia, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:608885
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Normochr...	OMIM:615512
Chylomicron Retention Disease	Failure to thrive, Acanthocytosis	ORPHA:71
Poems Syndrome	Thrombocytosis, Polycythemia, Weight loss	ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia	ORPHA:20
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Splenic cyst	OMIM:618188
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Short Stature With Microcephaly And Distinctive Facies	Small for gestational age, Anisopoikilocytosis, Anemia, Decreased body weight	OMIM:615789
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Weight loss	ORPHA:134
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	OMIM:608184
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age, Elevated hemoglobin A1c	OMIM:619278
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Lymphopenia	OMIM:618935
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Giant platelets, Anemia, Lateral ventricle dilatation, Thrombocytop...	OMIM:611209
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly	ORPHA:309282
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to...	OMIM:275350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Abcd Syndrome	Neonatal death, Polycythemia, Large for gestational age	OMIM:600501
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympho...	ORPHA:1572
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt...	OMIM:259710
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Chronic Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529799
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia	ORPHA:589
Orthostatic Hypotension 2	Anemia	OMIM:618182
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Thrombocytosis, Failure to thrive	OMIM:212065
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop...	OMIM:615688
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatosplenomegaly, Weight loss, Lateral ventricle dilatation, Failure to thriv...	OMIM:619487
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Failure to thrive	OMIM:615816
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Decreased body weight, Acanthocytosis	ORPHA:96180
Lathosterolosis	Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Failure to thrive, Thrombocytopenia	ORPHA:46059
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Myelomeningocele, Schistocytosis, Anisopoikilocyt...	OMIM:607330
Amme Complex	Elliptocytosis	OMIM:300194
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ...	OMIM:222470
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic anemia, Anemia	OMIM:611881
Oslam Syndrome	Anemia	OMIM:165660
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anemia	OMIM:617244
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:2462
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly	OMIM:616737
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Failure to thrive	OMIM:618495
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight	OMIM:619769
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hydrocephalus, Anemia	ORPHA:53
Brucellosis	Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Weight lo...	ORPHA:1304
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Obesity	ORPHA:251004
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Abetalipoproteinemia	Reticulocytosis, Failure to thrive, Anemia, Acanthocytosis	ORPHA:14
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive	OMIM:615387
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Infantile Sialic Acid Storage Disease	Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Failure to thrive	OMIM:269920
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mixed Connective Tissue Disease	Splenomegaly, Leukopenia, Hemolytic anemia	ORPHA:809
16Q24.3 Microdeletion Syndrome	Thrombocytopenia, Colpocephaly, Increased mean corpuscular volume, Ventriculomegaly	ORPHA:261250
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Thrombocytopenia, Splenomegaly, Increas...	ORPHA:699
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Acanthocytosis	OMIM:618947
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch...	OMIM:619374
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia	ORPHA:275766
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Hydatidiform Mole	Anemia	ORPHA:99927
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly, Large for gestational age	OMIM:617011
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Slender build, Ventriculomegaly, Large for gestational age	ORPHA:457359
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Splenomegaly	ORPHA:580
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Leukemia, Ventriculomegaly	OMIM:602501
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Shigellosis	Failure to thrive in infancy, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, T...	ORPHA:810
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Griscelli Syndrome	Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Leukopenia, Thrombocytopenia	ORPHA:381
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Anemia, Weight loss	OMIM:619377
Mirage Syndrome	Thrombocytopenia, Hydrocephalus, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopen...	OMIM:617053
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Thrombocytopenia	OMIM:615846
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Acute leukemia	ORPHA:2770
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly, Dandy-Walker malformation	ORPHA:487796
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni...	OMIM:613179
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227645
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Failure to thrive, Thrombocytopenia	OMIM:614576
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Hydrocephalus, Spleno...	OMIM:259720
Distal Renal Tubular Acidosis	Hemolytic anemia, Failure to thrive	ORPHA:18
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Failure to thrive, Thrombocytopenia	ORPHA:2785
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly	OMIM:619841
Wilson Disease	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia	OMIM:277900
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased...	ORPHA:90041
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hydrocephalus, Reticulocytopenia, Anemia, Neutropenia, L...	OMIM:227646
Osteopetrosis, Autosomal Recessive 7	Anemia, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Glucagonoma	Normochromic anemia, Weight loss, Acanthocytosis	ORPHA:97280
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Whipple Disease	Splenomegaly, Hydrocephalus, Cachexia, Anemia	ORPHA:3452
Lead Poisoning	Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia	ORPHA:90036
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hydrocephalus, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
B4Galt1-Cdg	Splenomegaly, Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Fanconi Anemia, Complementation Group B	Thrombocytopenia, Hydrocephalus, Aplastic anemia, Ventriculomegaly	OMIM:300514
Kleeblattschaedel	Hydrocephalus	OMIM:148800
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t...	OMIM:616034
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia	OMIM:617388
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:616100
Fried Syndrome	Hydrocephalus	ORPHA:85335
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hydrocephalus, Obesity, Ventriculomegaly	OMIM:615630
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Sarcoidosis	Hemolytic anemia, Eosinophilia, Abnormal cerebrospinal fluid morphology, Thrombocytopenia, Increa...	ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Doors Syndrome	Thrombocytosis, Spina bifida occulta, Dandy-Walker malformation	ORPHA:79500
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Failure to thrive, Hypoplastic spleen	OMIM:602361
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Kabuki Syndrome 1	Hemolytic anemia, Hydrocephalus, Lateral ventricle dilatation, Autoimmune thrombocytopenia	OMIM:147920
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Obesity	ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Temple Syndrome	Small for gestational age, Overweight, Hydrocephalus, Obesity, Truncal obesity	OMIM:616222
Temple Syndrome	Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	OMIM:175780
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Gaucher Disease, Type Iiic	Splenomegaly, Hydrocephalus, Pancytopenia	OMIM:231005
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Failure to thrive, Small for gestational age, Ventriculomegaly	OMIM:609757
H Syndrome	Hepatosplenomegaly, Hydrocephalus, Histiocytosis, Microcytic anemia	ORPHA:168569
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Lateral ventricle d...	ORPHA:2388
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Fanconi Anemia, Complementation Group L	Hydrocephalus, Anemia	OMIM:614083
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hydrocephalus, Anemia	ORPHA:163979
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Obesity	ORPHA:171839
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Hydrocephalus, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79282
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:505248
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Pancytopenia, Cachexia, Abnormality of the spleen, Hydrocephalus, Thrombocytope...	ORPHA:2072
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Jacobsen Syndrome	Hydrocephalus, Failure to thrive, Holoprosencephaly, Thrombocytopenia	OMIM:147791
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Dubowitz Syndrome	Abnormality of neutrophils, Thrombocytopenia, Hydrocephalus, Acute lymphoblastic leukemia, Spina ...	ORPHA:235
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age	OMIM:613330
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Leukemia	OMIM:619951
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:619833
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Hydrocephalus	ORPHA:1834
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Failure to thrive, Ventriculomegaly, Hepatosplenomegaly	OMIM:619503
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Anemia	ORPHA:3042
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Primary Ciliary Dyskinesia	Asplenia, Hydrocephalus, Polysplenia, Ventriculomegaly	ORPHA:244
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Hydrocephalus, Leukemia, Dandy-Walker malformation, Ventriculomegaly	OMIM:257300
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus	ORPHA:585
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hydrocephalus, Anemia	ORPHA:667
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Desmosterolosis	Splenomegaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:35107
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Gaucher Disease	Pancytopenia, Ventriculomegaly, Thrombocytopenia, Hydrocephalus, Splenomegaly, Anemia	ORPHA:355
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Congenital Sialidosis Type 2	Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
Emanuel Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Spina bifida, Hydrocephalus, Weight...	ORPHA:84
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Mucopolysaccharidosis, Type Ii	Splenomegaly, Hydrocephalus, Hepatosplenomegaly	OMIM:309900
Stromme Syndrome	Accessory spleen, Hydrocephalus, Stillbirth	OMIM:243605
Emanuel Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Isotretinoin-Like Syndrome	Hydrocephalus, Lymphopenia	ORPHA:2306
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight	OMIM:614886
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Dilated third ventricle, Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:500055
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive	OMIM:612940
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Joubert Syndrome With Hepatic Defect	Splenomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Failure to thrive	OMIM:115150
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death	OMIM:269860
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Hurler Syndrome	Splenomegaly, Hydrocephalus, Hepatosplenomegaly	OMIM:607014
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Hydrocephalus, Abdominal obesity	OMIM:619321
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Mucopolysaccharidosis, Type Vii	Splenomegaly, Hydrocephalus	OMIM:253220
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Fg Syndrome Type 1	Hydrocephalus, Slender build, Ventriculomegaly	ORPHA:93932
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Rabin-Pappas Syndrome	Hydrocephalus, Failure to thrive in infancy, Obesity	OMIM:620155
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Abnormality of the spleen, Hydrocephalus, Spinal dys...	ORPHA:2162
Tetrasomy 5P	Hydrocephalus, Failure to thrive	ORPHA:3309
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Mucopolysaccharidosis Type 1	Splenomegaly, Hydrocephalus	ORPHA:579
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Coccidioidomycosis	Eosinophilia, CSF pleocytosis, Hydrocephalus, Abnormality of the spleen, CSF lymphocytic pleiocyt...	ORPHA:228123
Trisomy 1Q	Hydrocephalus, Ventriculomegaly	ORPHA:261344
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Muenke Syndrome	Hydrocephalus	ORPHA:53271
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Obesity, Occ...	ORPHA:567
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Hurler Syndrome	Splenomegaly, Hydrocephalus	ORPHA:93473
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Failure to thrive	OMIM:608091
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Trisomy 17P	Hydrocephalus	ORPHA:261290
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Cryptococcosis	Hydrocephalus, Lymphoid leukemia	ORPHA:1546
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:395
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus	OMIM:616482
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Meckel Syndrome	Encephalocele, Accessory spleen, Asplenia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, D...	ORPHA:564
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Monosomy 18Q	Hydrocephalus, Failure to thrive, Slender build	ORPHA:1600
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Mucopolysaccharidosis, Type Vi	Splenomegaly, Cervical myelopathy, Hydrocephalus	OMIM:253200
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Asplenia, Myelomeningocele, Hydrocephalus, Polysplenia, Failure to thrive	OMIM:306955
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:619575
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Osteogenesis Imperfecta	Ventriculomegaly, Small for gestational age, Hydrocephalus, Noncommunicating hydrocephalus, Throm...	ORPHA:666
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Accessory spleen, Asplenia, ...	OMIM:249000
Desmosterolosis	Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:602398
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Mucopolysaccharidosis Type 3	Splenomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Hajdu-Cheney Syndrome	Splenomegaly, Hydrocephalus, Failure to thrive	ORPHA:955
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Failure to thrive	ORPHA:58
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Small for gestational age	OMIM:101800
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:264480
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus	ORPHA:90652
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Cardiofaciocutaneous Syndrome	Hydrocephalus, Failure to thrive in infancy	ORPHA:1340
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250989
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia	ORPHA:220295
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Marshall-Smith Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Decreased body weight	OMIM:602535
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus, Failure to thrive	OMIM:619512
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
7Q11.23 Microduplication Syndrome	Hydrocephalus, Obesity, Ventriculomegaly	ORPHA:96121
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Large for gestational age	ORPHA:77301
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus	OMIM:273395
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hydrocephalus, Colpocephaly, Holoprosencephaly, Failure to thrive, Dandy-Walker mal...	OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Pseudoaminopterin Syndrome	Asplenia, Hydrocephalus	ORPHA:221120
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Raine Syndrome	Neonatal death, Hydrocephalus	OMIM:259775
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Hydrocephalus, Spina bifida occulta	OMIM:300373
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Wolf-Hirschhorn Syndrome	Accessory spleen, Small for gestational age, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:194190
Kabuki Syndrome	Hydrocephalus, Failure to thrive, Obesity, Ventriculomegaly	ORPHA:2322
Achondroplasia	Hydrocephalus	OMIM:100800
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Apert Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:101200
Neurofibromatosis Type 1	Hydrocephalus, Leukemia, Chronic myelogenous leukemia	ORPHA:636
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Overweight, Hydrocephalus, Obesity, Decreased body weight, Failure to thrive, Decreased CSF 5-met...	OMIM:619475
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Spina bifida, Hydrocephalus, Slender build, Ventriculomegaly	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Spina bifida, Hydrocephalus, Slender build, Ventriculomegaly	ORPHA:363958
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Mohr Syndrome	Hydrocephalus	OMIM:252100
Opitz-Kaveggia Syndrome	Hydrocephalus	OMIM:305450
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	ORPHA:401973
Craniopharyngioma	Hydrocephalus, Obesity	ORPHA:54595
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:300960
Medulloblastoma	Hydrocephalus	ORPHA:616
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Hydrocephalus, Hypoplasia of the thymus, Failure to thrive, Dandy-Walk...	OMIM:264090
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Stillbirth	ORPHA:95699
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Marden-Walker Syndrome	Hydrocephalus, Failure to thrive	ORPHA:2461
Histiocytoid Cardiomyopathy	Hydrocephalus, Failure to thrive	ORPHA:137675
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive	OMIM:102500
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Campomelic Dysplasia	Hydrocephalus, Failure to thrive, Spina bifida, Spinal dysraphism	OMIM:114290
Fontaine Progeroid Syndrome	Neonatal death, Hydrocephalus, Failure to thrive, Small for gestational age	OMIM:612289
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly	OMIM:620305
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Colpocephaly, Stillbirth, Lateral ventricle dilatation, Failure to thrive	OMIM:210710
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Microphthalmia With Limb Anomalies	Hydrocephalus, Failure to thrive	ORPHA:1106
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Stillbirth, Small for gestational age	OMIM:208150
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Colpocephaly	OMIM:309801
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Meningioma	Hydrocephalus, Obesity	ORPHA:2495
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Neonatal death, F...	OMIM:619534
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Costello Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:218040
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Failure to thrive	ORPHA:2556
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Failure to thrive	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Failure to thrive	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Failure to thrive	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Failure to thrive	ORPHA:220386
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Yunis-Varon Syndrome	Severe failure to thrive, Hydrocephalus	ORPHA:3472
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hydrocephalus, Frontal encephalocele, Stillbirth	OMIM:268300
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus	OMIM:219000
Simpson-Golabi-Behmel Syndrome, Type 1	Splenomegaly, Hydrocephalus, Polysplenia	OMIM:312870
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Obesity, Lateral ventricle dilatation	OMIM:607872
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Failure to thrive, Slender build	ORPHA:3455
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Peters-Plus Syndrome	Hydrocephalus, Ventriculomegaly, Decreased body weight	OMIM:261540
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Spina bifida	OMIM:304120
Townes-Brocks Syndrome 1	Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	OMIM:164210
Hypertension, Essential		OMIM:145500

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 Add1

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 Add1.

No publications found that use IMPC mice or data for Add1.

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
Add1^{tm1a(EUCOMM)Wtsi}	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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