Gene: Gfi1 MGI:103170

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

growth factor independent 1 transcription repressor

Synonyms:

Gfi-1, Pal-1, Pal1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gfi1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gfi1 (3 diseases)
Human diseases predicted to be associated with Gfi1 (948 diseases)

The table below shows human diseases associated to Gfi1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486

The table below shows human diseases predicted to be associated to Gfi1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment	ORPHA:2690
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk...	OMIM:614470
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Immunodeficiency 53	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr...	OMIM:617585
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutro...	OMIM:613501
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Conductive hearing impairment, Neutropenia, Sensorineural hearing i...	OMIM:610738
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia, Complete or near-complete absence of specific antibody respo...	OMIM:615401
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro...	OMIM:613101
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu...	OMIM:608971
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent...	OMIM:615617
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Opticocochleodentate Degeneration	Optic atrophy, Spastic tetraplegia, Hearing impairment, Cochlear degeneration	OMIM:258700
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Cochleosaccular Degeneration-Cataract Syndrome	Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Hearing impairment, Cochlear degeneration	OMIM:271250
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand ...	ORPHA:100973
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,...	ORPHA:277
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Abno...	OMIM:598500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 15A	Decreased proportion of memory B cells, Cutaneous abscess, Chronic mucocutaneous candidiasis, Acn...	OMIM:618204
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent...	OMIM:245480
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hearing impairment, Intrauterine growth retardation, Limb dystonia, Tremor, Aggressive behavior, ...	OMIM:620270
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Cerebellar atrophy, Decreased nerve conduction velocity, Pancytope...	OMIM:159550
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent...	OMIM:607594
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobuli...	ORPHA:572
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Abnormal head movements, Torticollis, Ataxia	ORPHA:71518
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T...	OMIM:616738
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Aggressive behavior, Hyperactivity,...	OMIM:300983
Mohr-Tranebjaerg Syndrome	Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal...	ORPHA:52368
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Abnormal head movements, Chorea, Abnormality of extrapyramidal motor fun...	ORPHA:382
Pontocerebellar Hypoplasia, Type 15	Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis...	OMIM:619470
Autosomal Agammaglobulinemia	Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinus...	ORPHA:33110
Specific Granule Deficiency 2	Low-set ears, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Simple ear, Absent ...	OMIM:617475
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy, Motor stereotypy, Spastic diplegia	OMIM:617830
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, In...	OMIM:618944
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ...	ORPHA:95433
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
X-Linked Agammaglobulinemia	Recurrent pneumonia, Failure to thrive, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Sens...	ORPHA:47
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific antibody response t...	ORPHA:70593
Pontocerebellar Hypoplasia, Type 14	Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Activated Pi3K-Delta Syndrome	Pneumonia, Hearing impairment, Failure to thrive, Recurrent otitis media, Decreased circulating a...	ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurr...	OMIM:617862
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, ...	ORPHA:444463
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega...	OMIM:616050
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf...	ORPHA:540
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Hyperactivity	ORPHA:436151
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines	OMIM:300425
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Immunodeficiency 23	Allergic rhinitis, Conductive hearing impairment, Failure to thrive, Eczematoid dermatitis, Chron...	OMIM:615816
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis	ORPHA:289916
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st...	OMIM:609425
Cyclic Neutropenia	Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Otitis media, Sinusitis...	ORPHA:2686
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal...	OMIM:618718
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity	OMIM:620448
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev...	OMIM:620501
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Recurre...	OMIM:601495
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal head movements, In...	ORPHA:157941
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Incoordination, Ataxia, Frequent falls	ORPHA:79136
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis	ORPHA:79312
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased F...	OMIM:304790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis	OMIM:619644
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec...	ORPHA:169160
Fragile X Syndrome	Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia	OMIM:300624
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic...	OMIM:617780
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentati...	OMIM:169400
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Hearing impairment, Postnata...	ORPHA:391417
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Usher Syndrome Type 1	Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub...	ORPHA:231169
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Eczematoid dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, A...	OMIM:619693
Trichothiodystrophy 3, Photosensitive	Low-set ears, Hearing impairment, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Incre...	OMIM:616395
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Sensorineural hearing impairment, Thrombocytopenia, ...	OMIM:155100
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Agammaglobulinemia, X-Linked	Hearing impairment, Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epid...	OMIM:300755
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment	ORPHA:231183
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Anorexia	ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 7	Cerebral cortical atrophy, Incoordination, Inappropriate laughter, Intrauterine growth retardatio...	OMIM:614104
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Spasticity, Broad-based gait, Difficulty walking, Inability to walk, Lim...	OMIM:617695
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Chorea, Inappropriate laughter, Dystonia, Motor stereotypy, Aggressive behavior, ...	OMIM:619150
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Dec...	OMIM:615607
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Cerebral cortical atrophy, Involuntary movements, Spasticity, Inability ...	OMIM:617820
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Hyperactivity, Macrotia	OMIM:300928
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Short stature, Anteverted ears, Motor stereotypy, Macrotia	OMIM:615541
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag...	OMIM:602450
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ...	OMIM:309548
Reticular Dysgenesis	Hearing impairment, Leukopenia, Anemia, Abnormality of neutrophils, Chronic otitis media	ORPHA:33355
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia	ORPHA:79477
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hype...	OMIM:619092
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Intrauterine gr...	ORPHA:369939
Atypical Rett Syndrome	Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot...	ORPHA:3095
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Intellectual Developmental Disorder, X-Linked 72	Short stature, Motor stereotypy, Hyperactivity	OMIM:300271
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoatheto...	OMIM:617270
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Low-set ears, Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, Sensorineur...	OMIM:615966
Smith-Magenis syndrome	Short stature, Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment, Cryptorchidism, Neutropenia	OMIM:620012
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster...	OMIM:608636
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Decreased circulating IgG level, Pneumonia, Decreased circulating IgA level, B lymp...	OMIM:614069
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Eczematoid dermatitis, Splenomegaly, Superficial dermal perivasc...	OMIM:620632
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Growth delay, Cerebral atrophy, Bruxism, Tremor, Self-mutilation, Ataxia, Bilatera...	OMIM:619422
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Cerebral atrophy, Inability to walk, Bruxism, Myoclonus, Stereotyp...	OMIM:618497
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulat...	OMIM:242860
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Spasticity, Cerebral palsy, Hippocampal atrophy, Dystonia, Aggressive behavior, Corp...	OMIM:301107
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Motor stereotypy	OMIM:619690
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea...	OMIM:303110
Huntington Disease-Like 3	Cerebral cortical atrophy, Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal ...	ORPHA:157946
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci...	ORPHA:3243
N-Acetylaspartate Deficiency	Broad-based gait, Self-mutilation, Short stature, Truncal ataxia, Unsteady gait, Motor stereotypy	OMIM:614063
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperacti...	OMIM:615924
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent aphthous stomatiti...	OMIM:614868
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Failure to thr...	ORPHA:35078
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Bruxis...	OMIM:617435
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa...	OMIM:617519
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Cerebral atrophy, Tetraplegia, Hypertonia, Hyperactivity, Growth delay	OMIM:274270
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno...	OMIM:603909
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Small for gestational age, Aspiration pneumonia, Neutropenia, Bronchiectasis	OMIM:618253
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav...	OMIM:618342
Christianson Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Dysphagia, Ne...	ORPHA:85278
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hearing impairment, Hyperactivity	OMIM:248510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Absent natural killer cells, Failure to thrive, Panhypogammaglobulinemia, Recurrent ot...	OMIM:600802
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin...	OMIM:617237
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski s...	OMIM:600795
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Posteriorly rotated ears, Neutropenia, Schistocytosis, Anemia, Thrombocy...	OMIM:301110
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Cerebral cortical atrophy, Periodontitis, Recurrent ...	OMIM:266265
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Abnormal B cell morphology, Conductive hearing impairment, Recurrent otitis media, ...	OMIM:616910
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphaden...	ORPHA:100024
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal...	OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Hearing impairment, Failure to thrive, Pancytopenia, Macrocyti...	ORPHA:2169
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro...	OMIM:618048
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Hearing impairment, Eczematoid dermatitis, Lymphopenia, Leukopenia, ...	ORPHA:508542
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Failure to thrive, Panhypogammaglobulinemia, Infectious enceph...	OMIM:209920
Acute Promyelocytic Leukemia	Vertigo, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Throm...	ORPHA:520
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Low-set ears, Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Short s...	OMIM:620445
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ...	ORPHA:2585
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot...	OMIM:600501
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Atresia of the external auditory canal, Stenosis of the external aud...	OMIM:614900
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Spasticity, Cerebral palsy, Attention deficit hyperactivity disorder, Repetitive co...	ORPHA:352490
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Optic Atrophy 11	Optic atrophy, Hearing impairment, Stereotypical body rocking, Facial diplegia, Dysmetria, Hyperk...	OMIM:617302
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Chediak-Higashi Syndrome	Hemophagocytosis, Neurodegeneration, Decreased nerve conduction velocity, Leukopenia, Giant neutr...	OMIM:214500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Vertigo, Leukocytosis, Splenomegaly, Sensorineural h...	ORPHA:3226
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple...	ORPHA:139431
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation	OMIM:617171
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Cohen Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Leukopenia, Childhood-onset...	OMIM:216550
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Fusariosis	Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia...	ORPHA:228119
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ...	OMIM:612541
Myh9-Related Disease	Giant platelets, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutrophil inclus...	ORPHA:182050
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy	OMIM:606053
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cerebral atrophy, B lymphocytopenia	OMIM:619851
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Ogden Syndrome	Low-set ears, Shuffling gait, Abnormal head movements, Cerebral atrophy, Postnatal growth retarda...	ORPHA:276432
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Spasticity, Amyotrophic lateral sclerosis, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia	OMIM:612069
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Thrombocytopenia,...	ORPHA:3240
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea, Abnormal head movements	OMIM:616939
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphop...	ORPHA:331206
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cho...	OMIM:618917
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Hearing impairment, Panhypogammaglobulinemia, Recurrent otitis ...	OMIM:307200
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic...	ORPHA:280763
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringin...	ORPHA:561854
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ...	OMIM:608233
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Cerebral atrophy, Abnormal fear-induced behavior, Neurodegeneration, Post...	ORPHA:309246
Smith-Magenis Syndrome	Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-bangin...	OMIM:182290
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Propionic Acidemia	Failure to thrive, Cerebral atrophy, Eczematoid dermatitis, Pancytopenia, Pancreatitis, Thrombocy...	OMIM:606054
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Neurodegeneration, Lymphopenia, Leukopenia, Splenomegaly, Decrea...	OMIM:620210
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Abnormal cytok...	ORPHA:158048
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Failure to thrive, Pancytopenia, Skin rash, Megaloblastic anemia, Neutropenia, Thro...	OMIM:277380
Hermansky-Pudlak Syndrome 10	Low-set ears, Cerebral atrophy, Splenomegaly, Neutropenia, Dystonia, Macrotia	OMIM:617050
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Megaloblastic anemia, Failure to thrive, Neutropenia	OMIM:250940
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Intrauterine growth retardation, Hypertonia, Motor stereotypy, Spastic t...	OMIM:615282
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato...	ORPHA:98813
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Baker-Gordon Syndrome	Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ...	OMIM:618218
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Barth Syndrome	Failure to thrive, Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopen...	OMIM:302060
Shwachman-Diamond Syndrome	Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia,...	ORPHA:811
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia...	ORPHA:530983
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re...	OMIM:612562
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Conductive hearing impairment, Decreased response to growth hormone ...	OMIM:609053
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance...	OMIM:618090
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ...	ORPHA:248111
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema	ORPHA:157991
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Cerebral atrophy, Cryptorchidism, Thrombocytopenia, Neutropenia, Normochromic ...	OMIM:614857
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Motor stereotypy, Progressive spasticity, Dysphagia, Macrotia	DECIPHER:45
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Speech apraxia, Aggressive behavior, A...	OMIM:613670
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz...	OMIM:242700
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ...	OMIM:604173
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Frontotemporal cerebral atrophy, Inappropriate behavior, Fasciculations, Ab...	ORPHA:275864
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M...	OMIM:620292
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Spasticity, Recurrent otitis media, Aggressive behavior, Hyperactivity, Short stature, Brain atrophy	OMIM:615286
Immunodeficiency 88	Eosinophilia	OMIM:619630
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab...	ORPHA:500180
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Spasticity, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia...	OMIM:617807
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon...	ORPHA:436159
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Systemic Lupus Erythematosus 17	Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm...	OMIM:301080
Developmental And Epileptic Encephalopathy 66	Anemia, Cryptorchidism, Neutropenia	OMIM:618067
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Cupped ear, Hearing impairment, Persistence of hemo...	OMIM:617052
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Leukopenia, Splenomeg...	OMIM:617303
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Short stature, Motor stereotyp...	ORPHA:457240
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
7Q31 Microdeletion Syndrome	Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge...	ORPHA:251061
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Otitis media, Thrombocytopenia, Anemia, Abnormality of neutrophil...	ORPHA:229717
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Malar rash, Splenomegaly, Skin rash, Neutropenia, Thrombocytopenia...	ORPHA:398124
Lennox-Gastaut Syndrome	Falls, Vertigo, Myoclonus, Aggressive behavior, Hyperactivity	ORPHA:2382
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnorm...	ORPHA:247815
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Hippocampal atrophy, Recurrent otitis media, Hepatosp...	ORPHA:353298
Aminoacylase 1 Deficiency	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment...	OMIM:609924
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunog...	OMIM:242900
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitial ne...	OMIM:251000
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, ...	OMIM:619580
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Cerebral cortical atrophy, Inability to walk, Bruxism, Chorea, Paroxysma...	OMIM:618004
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia, Facial palsy	OMIM:253600
Dentici-Novelli Neurodevelopmental Syndrome	Hearing impairment, Inability to walk, Hypertonia, Motor stereotypy, Macrotia	OMIM:619877
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Hearing impairment, Pancytopenia, Leukopenia, Crypt...	OMIM:613990
Sneddon Syndrome	Lymphopenia, Facial palsy, Tremor	OMIM:182410
Fanconi Anemia, Complementation Group E	Hearing impairment, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombo...	OMIM:600901
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Congenital Enterovirus Infection	Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Skin rash, Infectious enceph...	ORPHA:292
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Lower limb...	OMIM:616881
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Cerebellar atrophy, Cerebral atrop...	ORPHA:445038
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Decreased body wei...	ORPHA:90051
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Cerebellar atrophy, Cerebral atrophy, Increas...	OMIM:620603
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bruxism, Tremor, Dystoni...	OMIM:300055
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytop...	OMIM:607944
4Q21 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Growth delay, Hearing impairment, Intrauterine growth reta...	ORPHA:238750
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Spasticity, Broad-based gait, Hearing impairment, Aggressive behavior, Hyperactivity	ORPHA:457260
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Abnormal lymph no...	ORPHA:911
Vici Syndrome	Low-set ears, Decreased circulating IgG level, Failure to thrive, Chronic mucocutaneous candidias...	OMIM:242840
Fanconi Anemia, Complementation Group A	Hearing impairment, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombo...	OMIM:227650
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Eczematoid d...	ORPHA:906
Intellectual Developmental Disorder, X-Linked 30	Macrotia, Clumsiness, Aggressive behavior, Hyperactivity, Short stature, Restlessness, Agitation	OMIM:300558
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Cerebral atrophy, Leukopenia, Tremor, Opisthotonus, Thrombocytopenia, Neutrop...	OMIM:616271
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i...	OMIM:600430
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Spasticity, Inability to walk, Chorea, Hypertonia, Exaggerated startle...	OMIM:617864
Intellectual Developmental Disorder, Autosomal Recessive 61	Low-set ears, Spasticity, Dysmetria, Babinski sign, Aggressive behavior, Clonus, Hyperactivity, U...	OMIM:617773
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive hearing impairment, Incoordination, Progressive spastic ...	ORPHA:43
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Pyruvate Dehydrogenase E2 Deficiency	Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst...	OMIM:245348
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop...	OMIM:613989
Adenylosuccinase Deficiency	Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Hemiplegia, In...	OMIM:103050
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Growth delay, Facial diplegia, Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperact...	OMIM:619121
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di...	OMIM:617808
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Protruding ea...	OMIM:615471
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Otitis media, Autoimmune hemoly...	OMIM:613179
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Hepatosplenomegaly, Decreased circulating antibody level, Interstitial pne...	OMIM:615952
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Decreased response to growth horm...	ORPHA:293978
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Occipital cortical atrophy, Prominent ear helix, Large earlobe, Inability to walk, Myoclonus, Mot...	ORPHA:411986
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n...	OMIM:610532
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Spasticity, Motor stereotypy, Cerebral atrophy	OMIM:617393
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ...	OMIM:610217
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis...	ORPHA:1435
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Impaired lymphocyte transformation with ph...	OMIM:250250
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Loss of ambulation, Clumsiness, Pa...	ORPHA:79264
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Hearing impairment, Pancytopenia, Cryptorchidism, Anemia, Reticulocy...	OMIM:227645
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Failure to thrive, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplas...	ORPHA:83471
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op...	ORPHA:1215
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Tay-Sachs Disease	Hearing impairment, Incoordination, Dysphagia, Poor fine motor coordination, Global brain atrophy...	ORPHA:845
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Spasticity, Motor stereotypy, Aggressive behavior, Hyperactivity, Ataxia, Compulsiv...	OMIM:618430
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Shwachman-Diamond Syndrome 2	Low-set ears, Normocytic anemia, Failure to thrive, Hyperechogenic pancreas, Thrombocytopenia, Ne...	OMIM:617941
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Abnormal T cell morph...	ORPHA:760
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Icf Syndrome	Low-set ears, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated st...	OMIM:609541
Cri-Du-Chat Syndrome	Low-set ears, Optic atrophy, Growth delay, Hearing impairment, Difficulty walking, Stenosis of th...	OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Low-set ears, Pain insensitivity, Growth delay, Inability to walk, Bruxism, Chorea, Rigidity, Low...	OMIM:300260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Self-injurious behavior, Broad-based gait, Cupped ear, Cerebellar vermis atrophy, L...	OMIM:617101
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Intellectual Developmental Disorder, X-Linked 107	Prominent crus of helix, Abnormality of superior crus of antihelix, Attention deficit hyperactivi...	OMIM:301013
Saul-Wilson Syndrome	Hearing impairment, Neutropenia, Sensorineural hearing impairment	OMIM:618150
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Decreased ...	OMIM:605309
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i...	ORPHA:320406
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Cinca Syndrome	Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme...	ORPHA:1451
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai...	OMIM:617802
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Short stature, Hypera...	OMIM:618027
Rett Syndrome	Growth delay, Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Dyston...	ORPHA:778
Alazami Syndrome	Low-set ears, Postnatal growth retardation, Abnormal eating behavior, Self-mutilation, Stereotypi...	ORPHA:319671

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