Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adducin 1 (alpha)
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:182900
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Thrombocythemia 2
Thrombocytosis OMIM:601977
Glut1 Deficiency Syndrome 2
Increased CSF lactate, Splenomegaly, Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis OMIM:612126
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
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
Porphyria, Acute Hepatic
Hemolytic anemia, Failure to thrive OMIM:612740
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy... OMIM:224120
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneous hemolytic crises, ... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hemolytic anemia, Hepatosplenomegaly OMIM:600461
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Anemia OMIM:209950
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis OMIM:232800
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185000
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Communicating hydrocephalus ORPHA:2268
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Schi... OMIM:616084
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... OMIM:235700
Hereditary Elliptocytosis
Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... ORPHA:288
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:618892
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytosis, Eryt... OMIM:266200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Hypoglycorrhachia, Spontaneous hemolytic crises, Communicating hydrocephalus,... ORPHA:168577
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Thrombocytosis, Coombs-positive hemolytic anemia, Asplenia OMIM:614034
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Increased red cell hemolysis by shear stress, Increased mean corpuscular hemoglobin... OMIM:194380
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Increased CSF protein OMIM:612300
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... OMIM:601775
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Nephronophthisis
Anemia ORPHA:655
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Congenital Atransferrinemia
Anemia ORPHA:1195
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
8P11.2 Deletion Syndrome
Hemolytic anemia, Spherocytosis, Splenomegaly ORPHA:251066
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Protoporphyria, Erythropoietic, 1
Hemolytic anemia OMIM:177000
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hypoglycorrhachia, Splenomegaly OMIM:608885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, V... OMIM:304790
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia... ORPHA:398124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Thrombocytosis, Anemia OMIM:615934
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cold Agglutinin Disease
Hemolytic anemia, Splenomegaly ORPHA:56425
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Developmental And Epileptic Encephalopathy 50
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis OMIM:616457
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit OMIM:263400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Galactosemia I
Hemolytic anemia, Failure to thrive OMIM:230400
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Proteus-Like Syndrome
Thymus hyperplasia, Hydrocephalus, Communicating hydrocephalus, Splenomegaly ORPHA:2969
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia ORPHA:71493
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ... OMIM:610333
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... ORPHA:324636
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Sickle Cell Anemia
Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency OMIM:603903
Lcat Deficiency
Hemolytic anemia ORPHA:650
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia ORPHA:57
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Celiac Disease, Susceptibility To, 1
Failure to thrive, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Weight loss OMIM:212750
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia, Failure to thrive OMIM:615486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Macrocytic anem... ORPHA:2169
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Chylomicron Retention Disease
Failure to thrive, Acanthocytosis ORPHA:71
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Weight loss, Reduced natural killer cell c... OMIM:301074
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Poems Syndrome
Polycythemia, Thrombocytosis, Weight loss ORPHA:2905
Triosephosphate Isomerase Deficiency
Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic ... OMIM:615512
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Failure to thrive, Leukocytosis, Hypochromic anemia OMIM:618213
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... OMIM:606367
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Thrombocytosis, Weight loss, Anemia ORPHA:20
Short Stature With Microcephaly And Distinctive Facies
Anemia, Decreased body weight, Anisopoikilocytosis, Small for gestational age OMIM:615789
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Beta-Ketothiolase Deficiency
Thrombocytosis, Weight loss, Leukocytosis ORPHA:134
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Hellp Syndrome
Increased body weight, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Mic... ORPHA:244242
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia OMIM:275350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Abcd Syndrome
Polycythemia, Large for gestational age, Neonatal death OMIM:600501
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Communicating hydrocephalus, Pancytopenia ORPHA:309282
Diamond-Blackfan Anemia 1
Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ... OMIM:105650
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst OMIM:618935
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Splenomegaly, Hemolytic anemia, Neutropenia, Thrombocytopenia OMIM:308230
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Failure to thrive in in... ORPHA:1572
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Copper Deficiency, Familial Benign
Failure to thrive, Anemia OMIM:121270
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Pancytop... OMIM:615688
Krabbe Disease
Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein OMIM:245200
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia ORPHA:589
Orthostatic Hypotension 2
Anemia OMIM:618182
Lathosterolosis
Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa... OMIM:607330
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Amme Complex
Elliptocytosis OMIM:300194
Acute Bilirubin Encephalopathy
Hemolytic anemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia ORPHA:529808
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive, Dilated fourth ventricle OMIM:212065
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Acanthocytosis, Abnormal erythrocyte morphology ORPHA:96180
Mcleod Syndrome
Acanthocytosis, Splenomegaly OMIM:300842
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Lathosterolosis
Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia ORPHA:46059
Hepatocellular Carcinoma
Polycythemia, Thrombocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:88673
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Trichohepatoenteric Syndrome 1
Failure to thrive, Small for gestational age, Splenomegaly, Increased mean platelet volume, Throm... OMIM:222470
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Anemia, Normochromic anemia OMIM:611881
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Hemolytic anemia, Neutropenia OMIM:615816
Oslam Syndrome
Anemia OMIM:165660
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Small for gestational age, Hypoplasia of the thymus, Increased mean pl... ORPHA:84064
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Shprintzen-Goldberg Syndrome
Failure to thrive, Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly OMIM:616737
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Small for gestational age OMIM:618858
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Weight loss, Anemia OMIM:619487
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinop... ORPHA:3260
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hydrocephalus, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Albers-Schönberg Osteopetrosis
Anemia, Hydrocephalus, Abnormal leukocyte morphology ORPHA:53
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Immunodeficiency 64
Failure to thrive, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells... OMIM:618534
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... ORPHA:447
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Brucellosis
Failure to thrive, Leukocytosis, Splenomegaly, Small for gestational age, Leukopenia, Thrombocyto... ORPHA:1304
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Episodic hemolytic anemia ORPHA:251004
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Pgm3-Cdg
Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... OMIM:260400
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Abetalipoproteinemia
Anemia, Failure to thrive, Reticulocytosis, Acanthocytosis ORPHA:14
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Infantile Sialic Acid Storage Disease
Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Colpocephaly, Ventriculomegaly ORPHA:261250
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Arthrogryposis Multiplex Congenita 5
Poikilocytosis, Normocytic anemia, Acanthocytosis OMIM:618947
Pearson Syndrome
Increased CSF lactate, Neutropenia, Splenomegaly, Anemia, Small for gestational age, Hypoplastic ... ORPHA:699
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Small for gestational age OMIM:606176
Mixed Connective Tissue Disease
Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:809
Fanconi Anemia, Complementation Group E
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:600901
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:263700
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Slender build, Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Splenomegaly ORPHA:580
Fanconi Anemia, Complementation Group A
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227650
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Thymic Aplasia
Decreased proportion of naive T cells, Failure to thrive, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Nijmegen Breakage Syndrome
Cachexia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia OMIM:613309
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus ORPHA:250994
Griscelli Syndrome
Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils, Encephalocele, Thrombocytopenia ORPHA:381
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, N... ORPHA:811
Osteootohepatoenteric Syndrome
Anemia, Failure to thrive, Hydrocephalus, Weight loss OMIM:619377
Shigellosis
Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Failure to th... ORPHA:810
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia ORPHA:2720
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Mirage Syndrome
Hydrocephalus, Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thromb... OMIM:617053
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Small for gestational a... OMIM:557000
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hemolytic anemia, Weight loss, Pancytopenia, Anemia, Thrombocytopenia OMIM:615846
Nasu-Hakola Disease
Hydrocephalus, Acute leukemia, Ventriculomegaly ORPHA:2770
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly, Dandy-Walker malformation ORPHA:487796
Fanconi Anemia, Complementation Group C
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227645
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hydrocephalus, Splenomegaly, Ventriculomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia ORPHA:2785
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal... ORPHA:331206
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypo... OMIM:259720
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Small for gestational age, Thrombocytopenia, Hemolytic anemia, Decreased proportion ... OMIM:619573
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Distal Renal Tubular Acidosis
Hemolytic anemia, Failure to thrive ORPHA:18
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired platelet agg... ORPHA:2968
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Wilson Disease
Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly OMIM:277900
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythroid hyperplasia, Splenomegaly ORPHA:95159
Pantothenate Kinase-Associated Neurodegeneration
Acanthocytosis ORPHA:157850
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Anemia, Elliptocytosis OMIM:300990
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Glucagonoma
Weight loss, Normochromic anemia, Acanthocytosis ORPHA:97280
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Fumarase Deficiency
Choroid plexus cyst, Failure to thrive, Polycythemia OMIM:606812
Whipple Disease
Anemia, Cachexia, Hydrocephalus, Splenomegaly ORPHA:3452
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Anemia, Le... OMIM:227646
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytope... ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hydrocephalus, Failure to thrive, Neutropenia, Thrombocytopenia OMIM:277400
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Temple Syndrome
Hydrocephalus, Overweight, Truncal obesity, Small for gestational age OMIM:616222
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... ORPHA:99826
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age ORPHA:330015
Osteopetrosis, Autosomal Recessive 7
Anemia, Hydrocephalus, Splenomegaly OMIM:612301
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia ORPHA:90036
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... ORPHA:911
Kleeblattschaedel
Hydrocephalus OMIM:148800
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fanconi Anemia, Complementation Group B
Hydrocephalus, Thrombocytopenia, Aplastic anemia, Ventriculomegaly OMIM:300514
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... OMIM:615952
Fried Syndrome
Hydrocephalus ORPHA:85335
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:615630
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Adams-Oliver Syndrome
Failure to thrive, Hydrocephalus, Leukopenia, Encephalocele, Thrombocytopenia ORPHA:974
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia, Splenomegaly OMIM:617388
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia OMIM:105600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Immunodeficiency 17
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... OMIM:615607
B4Galt1-Cdg
Hydrocephalus, Small for gestational age, Dandy-Walker malformation, Splenomegaly ORPHA:79332
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Central Precocious Puberty
Increased body weight, Hydrocephalus, Obesity ORPHA:759
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Biemond Syndrome Type 2
Obesity, Hydrocephalus ORPHA:141333
Sarcoidosis
Abnormality of the cerebrospinal fluid, Eosinophilia, Leukopenia, Hemolytic anemia, Weight loss, ... ORPHA:797
Doors Syndrome
Thrombocytosis, Spina bifida occulta, Arrhinencephaly, Dandy-Walker malformation ORPHA:79500
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Achondroplasia
Hydrocephalus OMIM:100800
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eo... OMIM:102700
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Alexander Disease