Gene Summary

zinc finger protein 804A

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Zfp804aem1(IMPC)Tcp HOM Early adult 1.74×10-05
decreased neutrophil cell number Zfp804aem1(IMPC)Tcp HOM Early adult 7.59×10-06
decreased anxiety-related response Zfp804aem1(IMPC)Tcp HOM Early adult 4.10×10-06
hydrometra Zfp804aem1(IMPC)Tcp HOM Early adult 0.00
increased lymphocyte cell number Zfp804aem1(IMPC)Tcp HOM Early adult 3.31×10-05
prolonged QT interval Zfp804aem1(IMPC)Tcp HOM Early adult 1.35×10-05
hyperactivity Zfp804aem1(IMPC)Tcp HOM Early adult 9.19×10-09
increased mean corpuscular volume Zfp804aem1(IMPC)Tcp HOM Early adult 4.38×10-05

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

99 Images

Eye Morphology

Images Slit Lamp

72 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Zfp804a 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.

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

The table below shows human diseases predicted to be associated to Zfp804a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Depression OMIM:602079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Whim Syndrome 2
Chronic neutropenia OMIM:619407
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Hypospadias, Prolonged QT interval, Noncompaction cardiomyopathy, Nonprog... OMIM:610198
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism, Anxiety OMIM:617796
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt... OMIM:159550
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... OMIM:615234
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Familial Pseudohyperkalemia
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Ataxia, Irritability, Thrombocytopenia, Folate-responsive meg... OMIM:229050
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Jervell And Lange-Nielsen Syndrome
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... ORPHA:90647
Glutathione Synthetase Deficiency
Ataxia, Hemolytic anemia, Neutropenia OMIM:266130
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Neutropenia, Arrhythmia OMIM:616949
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia, Dystonia OMIM:619302
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Whim Syndrome 1
Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of female external gen... OMIM:193670
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Abnormal erythro... ORPHA:98870
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... OMIM:155100
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Hemochromatosis, Type 3
Neutropenia, Hypogonadotropic hypogonadism, Anemia, Cardiomyopathy, Lymphopenia OMIM:604250
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Pancytopenia, Le... ORPHA:2169
Barth Syndrome
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Neutropenia, Congestive he... OMIM:302060
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Amed Syndrome, Digenic
Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyperactivity dis... OMIM:619151
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Neutropenia, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia, Lethargy ORPHA:79312
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Lethargy OMIM:277410
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Neutropenia, Anemia, Thrombocytopenia, Lethargy ORPHA:289916
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... ORPHA:88
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Laryngeal dystonia, Irritability, Anxiety, Abnorma... ORPHA:36913
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Emotional labilit... ORPHA:101096
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Neutropenia, Bradycardia OMIM:617248
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... OMIM:150550
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Atax... OMIM:603585
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... OMIM:308240
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Acute myeloid l... ORPHA:86839
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia, Broad-based gait OMIM:618067
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia ORPHA:231111
Thrombocytopenia, Anemia, Gait imbalance ORPHA:673
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Pulmonary arterial hypertension, Anemia, Thrombocytopenia, Cryptorchidism, Lethargy OMIM:614857
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Dystonia, Prolonged QT interval, Hypochromic microcytic anemia, Ataxia, B... ORPHA:66634
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Ataxia, Irritability, Reticulocytopenia, Pancytopenia, Lethargy OMIM:275350
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon ORPHA:401945
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Aicardi-Goutieres Syndrome 3
Dystonia, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th... ORPHA:49827
Evans Syndrome
Syncope, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune thrombocytop... ORPHA:1959
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Syncope, Hypertension, ST segment depression, Prolonged QTc in... ORPHA:90065
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia OMIM:616176
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia, Lethargy OMIM:611590
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenome... ORPHA:848
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Hypertension, Arrhythmia, Sideroblastic anemia OMIM:617021
Aicardi-Goutieres Syndrome 7
Dystonia, Splenomegaly, Vasculitis, Irritability, Thrombocytopenia OMIM:615846
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Increased circulating troponin I concentration OMIM:619040
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... ORPHA:124
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Laryngeal dystonia ORPHA:94090
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia OMIM:246400
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia OMIM:616744
Immunodeficiency 55
Neutropenia OMIM:617827
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hype... ORPHA:3077
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... OMIM:612541
Gaucher Disease, Type Iii
Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Depression OMIM:231000
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Isovaleric Acidemia
Lethargy, Leukopenia, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Leukopenia, Splenomegaly, Myocardial infarction, Congestive heart failure, Thrombocytopenia, Hemo... ORPHA:108
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Abnormal macrophage m... ORPHA:292
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Laryngeal dystonia, Irritability, Anxiety, Depression ORPHA:94089
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia... ORPHA:261250
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Ataxia, Thrombocy... OMIM:249270
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Difficulty walking OMIM:251900
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Ataxia, Thrombocytopenia, Lethargy ORPHA:27
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Cryptorchidism OMIM:615597
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Decreased platelet glycopr... OMIM:173470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Waddling gait, ... OMIM:242900
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Bradycardia, Thrombocytopenia, Hypotension, Lethargy ORPHA:391673
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... ORPHA:54057
Propionic Acidemia
Dystonia, Neutropenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Pancytopenia, Thrombocytope... OMIM:606054
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, ... OMIM:618278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Azoospermia, Anemia, Hypogonadism, Hepatosplenomegaly, Dysplastic erythropoe... ORPHA:300298
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia ORPHA:2123
Transaldolase Deficiency
Telangiectasia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the clitoris ORPHA:101028
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Morm Syndrome
Aggressive behavior, Hyperactivity, Micropenis ORPHA:75858
Hypertension, Elevated diastolic blood pressure, Polycystic ovaries, Elevated systolic blood pres... ORPHA:275555
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... ORPHA:572
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Rett Syndrome
Dystonia, Abnormal T-wave, Prolonged QTc interval, Truncal ataxia, Gait ataxia, Gait apraxia OMIM:312750
Chediak-Higashi Syndrome
Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An... OMIM:214500
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... OMIM:231200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Dystonia, Gait disturbance, Ventricular tachycardia, Torsade de poin... OMIM:616878
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations,... OMIM:170390
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Cerebral vasculitis, Thrombocytopenia, Anxiety, Depression ORPHA:83601
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Neutropenia OMIM:600351
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Ataxia OMIM:613839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly OMIM:610539
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Rhabdoid Tumor
Hypertension, Anemia, Irritability, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Brain abscess, Ventricular arrhythmia, I... ORPHA:97214
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Methylmalonic Aciduria, Cblb Type
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Lethargy OMIM:251110
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Abnormal alpha granule content... OMIM:601399
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Pulmonary arterial hypertension, Persistence of hemoglobin F... ORPHA:231222
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis OMIM:617718
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Frontotemporal dementia, Dementia, Amyotrophic lateral sclerosis, Memory impairment OMIM:619132
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent epistaxis, My... ORPHA:182050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Aicardi-Goutieres Syndrome 4
Dystonia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Epistaxis, Anemia, Pancytopenia, Thrombocytopenia, Diffuse... ORPHA:520
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Methylmalonic Aciduria, Cbla Type
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Lethargy OMIM:251100
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Irritability OMIM:612952
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Lethargy OMIM:277380
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Quebec Platelet Disorder
Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis OMIM:601709
Mcleod Syndrome
Dilated cardiomyopathy, Atrial fibrillation, Acanthocytosis, Cardiomyopathy, Hepatosplenomegaly, ... OMIM:300842
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... ORPHA:231226
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... ORPHA:158048
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Gait ataxia OMIM:254900
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Felty Syndrome
Neutropenia, Pericarditis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Ataxia, T... ORPHA:466650
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persist... ORPHA:231214
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Immune Thrombocytopenia
Cerebral hemorrhage, Thrombocytopenia, Gastrointestinal hemorrhage, Epistaxis ORPHA:3002
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... ORPHA:508542
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Splenomegaly OMIM:613327
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, ... ORPHA:229717
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Lig4 Syndrome
Telangiectasia, Micropenis, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:606593
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Euphoria, Ataxia, C... ORPHA:31826
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Neutrophilia, Thrombocytopenia, Hypoten... ORPHA:91547
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Nathalie Syndrome
Abnormal EKG OMIM:255990
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Dengue Fever
Cerebral hemorrhage, Leukopenia, Epistaxis, Gastrointestinal hemorrhage, Thrombocytopenia, Hypote... ORPHA:99828
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Lichtenstein Syndrome
Neutropenia OMIM:246550
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Atrial fibrillation, Neutropenia in presence of anti-neutropil antibod... ORPHA:525731
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... OMIM:616050
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Prolonged QT interval, Ataxia, Abnormal EKG, Arrhythmia ORPHA:480864
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Irritability, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... ORPHA:3226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Ataxia, Lethargy ORPHA:79242
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Pulmonary arterial hyperten... ORPHA:1830
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia, Recurrent cutaneous abscess formation ORPHA:47
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... OMIM:613011
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:600901
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia ORPHA:507
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:227650
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Lethargy ORPHA:71212
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Leukopenia, Cardiomyopathy, Thrombocytopenia, Cerebellar hemorrhage OMIM:251000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Hypoplasia of the thymus, Chronic leukemia, Recurrent in... ORPHA:906
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Co... OMIM:617303
Wilson Disease
Aggressive behavior, Anemia, Splenomegaly, Hypersexuality, Thrombocytopenia, Depression, Difficul... ORPHA:905
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Laryngeal dystonia, Irritability, Hypergonadotropic hypogonadism, Anxiety,... ORPHA:79444
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Dystonia, Hypospadias, Neutropenia, Ataxia, Arrhythmia OMIM:615471
Intracranial hemorrhage, Prolonged QT interval, Aggressive behavior, Anemia, Emotional blunting, ... ORPHA:86309
Brain abscess, Leukocytosis, Anemia, Tachycardia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Anxiety, Neutrophilia OMIM:266265
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Wolfram Syndrome 1
Testicular atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Ataxia, Thrombocy... OMIM:222300
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Abnormal platelet function, Laryngeal dystonia, Irritability... ORPHA:79443
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thrombocytopenia, Bradycardia, Lethargy OMIM:617397
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Epistaxis, Imp... OMIM:139090
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... ORPHA:760
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomeg... OMIM:230800
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Tachycardia, Bradycardia, Splenomegaly, Thrombocytopenia, Hypo... ORPHA:90051
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Iron deficiency anemia, ST seg... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia, Lethargy ORPHA:79284
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Gait disturbance, Neutropenia, Thrombocytopenia, Abnorma... ORPHA:167
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Cryptorchidism OMIM:614294
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Immunodeficiency 23
Neutropenia, Abscess, Vasculitis in the skin, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Ataxia, Hypotension OMIM:263800
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagoc... OMIM:619644
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Urethral stricture, Pancytopenia, Thrombocytopenia, Aplastic ... OMIM:613989
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:227645
Stormorken Syndrome
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Thrombocytopenia OMIM:185070
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Anemia, Congenital thrombocytopenia OMIM:618886
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Von Willebrand Disease, Type 3
Thrombocytopenia, Joint hemorrhage, Epistaxis, Impaired platelet aggregation OMIM:277480
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Cerebr... OMIM:613179
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... ORPHA:100026
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Cryptorchidism, Anemia OMIM:608104
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Micropenis, Reticulocytopenia, Cryptorchidism, Hypergonadotropic h... OMIM:227646
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Thrombocytopenia, Hepatosplenomegaly, Irritability, Ataxia ORPHA:263501
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia ORPHA:1237
17Q24.2 Microdeletion Syndrome
Mood swings, Prolonged QT interval, Aggressive behavior, Pulmonic stenosis, Anxiety ORPHA:529962
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Lethargy OMIM:253270
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Neutropenia, Anemia, Gastrointestinal hemorrhage, Abnormality of the ... ORPHA:537
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Congenital Disorder Of Glycosylation, Type Iig