Gene Summary

Name:
dicer 1, ribonuclease type III
Synonyms:
D12Ertd7e,  1110006F08Rik,  Dicer1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dicer1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased neutrophil cell number Dicer1tm1b(EUCOMM)Wtsi HET Early adult 6.98×10-05
embryonic lethality prior to tooth bud stage Dicer1tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased circulating alkaline phosphatase level Dicer1tm1b(EUCOMM)Wtsi HET   Early adult 1.85×10-05
abnormal retina morphology Dicer1tm1b(EUCOMM)Wtsi HET Early adult 3.93×10-07
absent spleen Dicer1tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased grip strength Dicer1tm1b(EUCOMM)Wtsi HET Early adult 6.29×10-05
decreased lean body mass Dicer1tm1b(EUCOMM)Wtsi HET Early adult 7.54×10-05
embryonic lethality prior to organogenesis Dicer1tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased red blood cell distribution width Dicer1tm1b(EUCOMM)Wtsi HET Early adult 2.13×10-07

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Dicer1 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 Dicer1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia OMIM:618272
Familial Multinodular Goiter
Sertoli cell neoplasm, Testicular seminoma, Ovarian neoplasm ORPHA:276399
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma OMIM:180295
Pleuropulmonary Blastoma
OMIM:601200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
OMIM:138800

The table below shows human diseases predicted to be associated to Dicer1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus OMIM:617442
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopen... OMIM:615285
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Lymphaden... OMIM:614034
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Neutropenia, Hemolytic anemia OMIM:266130
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Fanconi Anemia, Complementation Group V
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... OMIM:617243
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hemochromatosis, Type 3
Anemia, Cirrhosis, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... OMIM:604250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Optic atrophy, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocyto... ORPHA:79312
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 46
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Folate Malabsorption, Hereditary
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Optic atrophy, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:289916
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Failure to thrive, Lymphadenopathy, Hepatomegaly,... OMIM:615387
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia OMIM:602361
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Immunodeficiency 81
Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, Decreased p... OMIM:619374
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... ORPHA:79477
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombo... ORPHA:88
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... ORPHA:71275
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia OMIM:617056
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Leukemia, Pancytopenia OMIM:614038
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... ORPHA:35858
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased ... ORPHA:98850
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells ORPHA:543
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... OMIM:269200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Chronic active hepatitis, Perifoveal ring of hyperautofluorescence, Cholelithiasis, Pig... OMIM:240300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased proportion aut... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:617475
X-Linked Agammaglobulinemia
Anemia, Weight loss, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Failure to thr... ORPHA:47
Primary Ciliary Dyskinesia
Asplenia, Polysplenia, Rod-cone dystrophy ORPHA:244
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Failure to thri... OMIM:304790
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... ORPHA:54251
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hyperammonemia, Hepatomeg... OMIM:251000
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity OMIM:614900
Whim Syndrome 1
Neutropenia OMIM:193670
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Sclerosing cholangitis, ... ORPHA:572
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Elevated circu... OMIM:614857
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, Pancytopenia, ... OMIM:619767
Chediak-Higashi Syndrome
Leukopenia, Anemia, Ocular albinism, Macular hypoplasia, Jaundice, Giant neutrophil granules, Lym... OMIM:214500
Propionic Acidemia
Anemia, Hyperglycinemia, Pancytopenia, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocy... OMIM:606054
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... OMIM:169400
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... ORPHA:540
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Cholestasis, Hepat... ORPHA:398124
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... OMIM:258900
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Methylmalonic Aciduria, Cblb Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... OMIM:251110
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Cohen Syndrome
Leukopenia, Childhood-onset truncal obesity, Optic atrophy, Small for gestational age, Bone spicu... OMIM:216550
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Felty Syndrome
Anemia, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia... ORPHA:47612
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, Cholestasis, Leuko... ORPHA:292
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Letterer-Siwe Disease
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Wolcott-Rallison Syndrome
Decreased body weight, Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis... ORPHA:1667
Autoinflammatory Disease, Systemic, X-Linked
Chorioretinitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Neutropenia OMIM:301081
Methylmalonic Aciduria, Cbla Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... OMIM:251100
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Large for gestational age, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen... OMIM:614520
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... ORPHA:331235
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Failure to thrive... ORPHA:2169
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Abnormal optic nerve morphology, Lymphadenopathy, Abnormal neutrophil count, Bone ma... ORPHA:3226
Cyclic Neutropenia
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... ORPHA:2686
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hyperammonemia, Neutropenia, Optic atrophy OMIM:618253
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Highly elevated creatine kinase, Elevated circulating creatine kinase concentratio... OMIM:251900
Right Atrial Isomerism
Asplenia, Polysplenia, Abdominal situs ambiguus OMIM:208530
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre... OMIM:613011
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Polysplenia, Abdominal situs inversus OMIM:605376
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Failure to thrive, Macrocytic anemia, Hepa... OMIM:275350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Failure to thri... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Small for gestational age... OMIM:277380
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Optic atrophy, Chorioretinal hypopigmentation, Macrovesicular hepatic steatos... OMIM:617303
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Weight loss, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, N... ORPHA:520
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... ORPHA:811
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos... OMIM:618278
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive, Hepatomegaly OMIM:604273
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Jaundice, Pancytopenia, Hepatosplenomegaly, Abnormalit... ORPHA:167
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... ORPHA:79284
Meckel Syndrome
Pancreatic cysts, Asplenia, Optic atrophy, Abnormal chorioretinal morphology, Pancreatic fibrosis... ORPHA:564
Barth Syndrome
Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti... OMIM:557000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Pancytopenia, Failure to thrive, Thrombocytopenia, Bone marrow hypo... OMIM:613989
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Sepsis In Premature Infants
Anemia, Decreased body weight, Small for gestational age, Jaundice, Elevated circulating C-reacti... ORPHA:90051
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Decreased prealbumin level, Hepatitis, Neutropenia in presence of a... ORPHA:37042
Schimke Immuno-Osseous Dysplasia
Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Bone marrow hypocellularity, H... ORPHA:1830
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... OMIM:260400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... OMIM:614700
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Autosomal Agammaglobulinemia
Hepatitis, Failure to thrive, Neutropenia ORPHA:33110
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Ocu... OMIM:608233
Feingold Syndrome 1
Asplenia, Polysplenia, Accessory spleen, Annular pancreas OMIM:164280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Methylmalonic acidemia, Optic atrophy, Retinal degeneration, Jaundice, Hype... ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... OMIM:277400
Glycogen Storage Disease Ib
Hyperuricemia, Lipemia retinalis, Pancreatitis, Hepatocellular carcinoma, Pancreatic fibrosis, Hy... OMIM:232220
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... ORPHA:2330
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Fanconi Anemia, Complementation Group I
Neutropenia, Decreased body weight, Bone marrow hypocellularity, Optic nerve hypoplasia OMIM:609053
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplas... OMIM:110100
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly, Elevated circulating creatine kinase concentration OMIM:604173
Meckel Syndrome, Type 1
Asplenia, Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Bi... OMIM:249000
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Hepatomegaly, Ocular albinism OMIM:617050
Vici Syndrome
Leukopenia, T lymphocytopenia, Ocular albinism, Macular hypoplasia, Macular atrophy, Lymphopenia,... OMIM:242840
Pearson Syndrome
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... ORPHA:699
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Lymphadenopathy, Hemophagocytosis, Elevated ... OMIM:619644
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune hemolytic anemia, Auto... ORPHA:1959
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermap... ORPHA:91
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Neutropenia, Lymphopenia OMIM:616395
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure to thrive, Neutropenia OMIM:209920
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Small for gestational age, Lymphopenia, Pancytopenia, Thrombo... OMIM:242900
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Aspergillosis
Hepatitis, Neutropenia, Eosinophilia, Vitritis ORPHA:1163
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:600901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... ORPHA:508542
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:66628
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Failure to thrive, Hepatomegaly, Exocrine pancreatic ... OMIM:617941
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, E... ORPHA:829
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Biliary atresia, Polysplenia, Failure to thrive, Hepatomegaly, Abdominal situs inversus OMIM:306955
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Failure to thrive, Eosinophilia, Neutropenia, Abscess OMIM:615816
Immunodeficiency 22
Anemia, Thrombocytopenia, Abscess, Decreased proportion of CD4-positive helper T cells OMIM:615758
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated circulating C-rea... ORPHA:91547
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227650
Fusariosis
Brain abscess, Abnormality of the liver, Abnormal retinal morphology, Granuloma, Peritonitis, Lun... ORPHA:228119
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity ORPHA:445038
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:179494
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Weight loss, Lymphocytosis, Generalized lymph... ORPHA:50918
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Thymic Aplasia
Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ... ORPHA:83471
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Small for gestational age, Failure to thrive, Hyperammonemia, Neutropenia OMIM:615471
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone marrow hypocellularity, ... OMIM:227645
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... ORPHA:227990
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatre... OMIM:617053
Cohen Syndrome
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Neutropenia... ORPHA:193
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... ORPHA:227982
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... ORPHA:251510
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia, Decreased... OMIM:208900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Pulmonary lymphangiectasia, Annular pancreas OMIM:265380
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... OMIM:617099
Leigh Syndrome
Anemia, Hyperalaninemia, Optic atrophy, Failure to thrive, Abnormal optic nerve morphology, Neutr... ORPHA:506
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Hepatosplenome... OMIM:615952
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:607944
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Rectal abscess, B lymphocytopenia OMIM:601495
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia OMIM:300755
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone marrow hypocellularity, ... OMIM:227646
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Failure to thrive, Neutropenia, Pigmentary retinopathy OMIM:618460
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus OMIM:270100
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Retinal degeneration, Macular degene... ORPHA:33364
Cartilage-Hair Hypoplasia
Anemia, Abnormality of the pancreas, Abnormality of retinal pigmentation, Failure to thrive, Hepa... ORPHA:175
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Cholangitis OMIM:614204
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Failure to thr... OMIM:612852
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancyt... ORPHA:228426
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Hyperuricemia, Hepatocellular adenoma, Hepatocellular carcinoma, Abn... ORPHA:79259
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia OMIM:251260
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia OMIM:618005
Rothmund-Thomson Syndrome
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:2909
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Failure to thrive, Hepatomegaly, ... ORPHA:525731
Toxic Epidermal Necrolysis
Anemia, Weight loss, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:537
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Neutropenia, Weight loss, Ocular albinism ORPHA:79430
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Rothmund-Thomson Syndrome Type 1
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:221008
Diamond-Blackfan Anemia 1
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... OMIM:105650
Zygomycosis
Brain abscess, Hepatitis, Retinal arterial occlusion, Mediastinal lymphadenopathy, Retinal detach... ORPHA:73263
Whim Syndrome
Lymphadenitis, Neutropenia, Lymphopenia, Abnormality of neutrophil morphology ORPHA:51636
Hyper-Igd Syndrome
Lymphadenitis, Rod-cone dystrophy, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosi... OMIM:260920
Rothmund-Thomson Syndrome Type 2
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:221016
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Polycystic ovaries, F... ORPHA:572333
Glycogen Storage Disease Ic
Hyperuricemia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia... OMIM:232240
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Failure to thrive, Retinal coloboma ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:36238
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation