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 (942 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	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	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
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 40	Lymphopenia	OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:606843
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia	OMIM:615615
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils, Sensorineural hearing impairment	ORPHA:2690
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia	OMIM:267500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla...	OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder	Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan...	OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Recurrent otitis media, Neutropenia	OMIM:613501
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red...	OMIM:619374
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re...	OMIM:619281
Auditory Neuropathy, Autosomal Dominant, 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia	OMIM:616871
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Immunodeficiency 19	Recurrent otitis media, Lymphopenia	OMIM:615617
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula...	OMIM:300400
Adult Idiopathic Neutropenia	Monocytopenia, Neutropenia, Lymphopenia, Monocytosis	ORPHA:2688
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Immunodeficiency 8	Lymphopenia	OMIM:615401
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment, Acute lymphoblastic leukemia, Ne...	OMIM:610738
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Leukopenia	OMIM:310350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure...	OMIM:601495
Cochleosaccular Degeneration-Cataract Syndrome	Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease...	OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia	OMIM:613502
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment	OMIM:258700
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti...	OMIM:601457
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Eczema, Pneumonia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenome...	OMIM:608971
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphopenia, Dec...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari...	ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 84	B lymphocytopenia, Perianal abscess, Splenomegaly	OMIM:619437
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Primary Dystonia, Dyt13 Type	Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston...	ORPHA:98807
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Failure to thrive, Recurrent ...	ORPHA:277
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Sensorineural hearing imp...	OMIM:598500
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Autosomal Dominant Spastic Ataxia Type 1	Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys...	ORPHA:251282
3-Methylglutaconic Aciduria, Type Vii	Cerebellar atrophy, Neutropenia, Cerebral atrophy	OMIM:616271
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Ataxia, Cochlear degeneration, Slowed slurred speech, Progressive sensorineural hearing impairment	OMIM:172500
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I...	OMIM:150550
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Deafness, X-Linked 6	Cochlear malformation, Hearing impairment	OMIM:300914
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Cerebral atrophy, Neutropenia, Tremor	OMIM:617248
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Ataxia, Abnormal head movements, Vertigo	ORPHA:71518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem...	OMIM:618986
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Cerebellar atrophy, Acute myelomonocytic leukemia, Anemia, Decre...	OMIM:159550
Fraxe Intellectual Disability	Clumsiness, Intrauterine growth retardation, Short stature, Prominent ear helix, Hyperactivity, S...	ORPHA:100973
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:603552
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 15A	Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ...	OMIM:618204
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair...	ORPHA:95433
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Failure to thrive, I...	ORPHA:169154
Cernunnos-Xlf Deficiency	B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia	ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Decreased proportion of class-switched memory B cells, Reduced natural ki...	OMIM:615559
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:572
Immunodeficiency 76	B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia	OMIM:619164
Insulin-Like Growth Factor I Deficiency	Sensorineural hearing impairment, Hyperactivity, Intrauterine growth retardation, Short stature	OMIM:608747
Pgm3-Cdg	Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ...	ORPHA:443811
Omenn Syndrome	B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp...	OMIM:603554
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ...	OMIM:607594
Immunodeficiency 55	Lymphadenopathy, Neutropenia	OMIM:617827
Specific Granule Deficiency 2	Neutropenia, Absent neutrophil specific granules, Simple ear, Failure to thrive, Recurrent otitis...	OMIM:617475
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec...	OMIM:615513
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Inability to walk, Spastic diplegia, Stereotypy	OMIM:617830
Mohr-Tranebjaerg Syndrome	Global brain atrophy, Oromandibular dystonia, Abnormal pyramidal sign, Vestibular dysfunction, Ca...	ORPHA:52368
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti...	ORPHA:99852
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Neutropenia, Anemia, Sensorineural hearing impairment, Congenital thrombocytopenia, Thrombocytope...	OMIM:616738
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem...	OMIM:617862
X-Linked Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis...	ORPHA:47
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc...	ORPHA:70593
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Anteverted ears, Macrotia, Stereotypy, Hyperactivity	OMIM:615541
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ...	OMIM:618849
Polyendocrine-Polyneuropathy Syndrome	Progressive hearing impairment, Dystonia, Short stature, Ataxia, Postnatal growth retardation	OMIM:616113
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali...	OMIM:601369
Autosomal Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Failure to thri...	ORPHA:33110
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia, Spasticity, Cerebral cort...	OMIM:300983
Familial Isolated Dilated Cardiomyopathy	Sensorineural hearing impairment, Abnormality of neutrophils	ORPHA:154
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant ...	OMIM:155100
Immunodeficiency 13	B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h...	OMIM:615518
Macrophage Activation Syndrome	Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegal...	ORPHA:158061
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ...	ORPHA:217390
Episodic Ataxia Type 4	Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination	ORPHA:79136
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears	ORPHA:436151
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder...	ORPHA:540
Holoprosencephaly, Recurrent Infections, And Monocytosis	Cryptorchidism, Monocytosis	OMIM:610680
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, ...	ORPHA:444463
Retinal Venous Beading	Neutropenia, Hearing impairment	OMIM:180080
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait	OMIM:619470
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me...	OMIM:618944
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa...	OMIM:616050
Barth Syndrome	Macrotia, Granulocytopenia, Neutropenia, Failure to thrive	OMIM:302060
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia	OMIM:616873
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Cerebral atrophy	OMIM:616657
Immunodeficiency 52	Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly...	OMIM:617514
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin...	OMIM:614700
Optic Atrophy 11	Optic atrophy, Short stature, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperacti...	OMIM:617302
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decrea...	OMIM:618108
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Chromosome 3Q29 Deletion Syndrome	Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity, Low-set ears, Gait ataxia	OMIM:609425
Cyclic Neutropenia	Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent...	ORPHA:2686
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl...	OMIM:612541
Abcd Syndrome	Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment	OMIM:600501
Immunodeficiency 23	Conductive hearing impairment, Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Failure to...	OMIM:615816
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph...	OMIM:601859
Cataract-Ataxia-Deafness Syndrome	Short stature, Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity,...	ORPHA:1368
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:619644
Usher Syndrome Type 1	Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ...	ORPHA:231169
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ...	OMIM:247800
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot...	ORPHA:320401
Huntington Disease-Like 1	Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Jerky head movements, Fr...	ORPHA:157941
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls, Limb aprax...	ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia	ORPHA:79312
Diamond-Blackfan Anemia 11	Neutropenia, Anemia, Bone marrow hypocellularity, Stenosis of the external auditory canal, Atresi...	OMIM:614900
Hsd10 Disease	Gait disturbance, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Hearing impairment, Tremor...	ORPHA:391417
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	ORPHA:2643
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Aminoacylase 1 Deficiency	Sensorineural hearing impairment, Hyperactivity, Cerebellar atrophy, Cerebral atrophy	OMIM:609924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Erythroderma, Pneumonia, Failure to thrive secondary to recurren...	ORPHA:169160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Decreased circulating antibody l...	OMIM:617780
Felty Syndrome	Sinusitis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Lymphadenopa...	ORPHA:47612
Immunodeficiency 85 And Autoimmunity	Eczema, Failure to thrive in infancy, Erythroderma, Decreased circulating IgA level, Oligoarthrit...	OMIM:619510
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr...	OMIM:619092
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
Pelger-Huet Anomaly	Eczema, Neutropenia, Failure to thrive, Recurrent otitis media, Hyposegmentation of neutrophil nu...	OMIM:169400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Immunodeficiency 75	Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli...	OMIM:619126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade...	OMIM:304790
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Short stature, Stereotypy	OMIM:300271
Poikiloderma With Neutropenia	Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si...	OMIM:604173
Usher Syndrome Type 3	Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction	ORPHA:231183
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Fechtner syndrome	Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, High-frequency sensorin...	OMIM:153640
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle...	ORPHA:101096
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron...	OMIM:618982
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Microcytic anemia, Neutropenia	OMIM:251900
Spastic Tetraplegia And Axial Hypotonia, Progressive	Babinski sign, Cerebellar atrophy, Low-set, posteriorly rotated ears, Lower limb spasticity, Exag...	OMIM:618598
Pontocerebellar Hypoplasia, Type 11	Short stature, Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Broad-based ga...	OMIM:617695
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,...	ORPHA:86841
Fragile X Syndrome	Hyperactivity, Abnormal head movements, Macrotia	OMIM:300624
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Eczema, Inflammation of the large intestine, Neutropenia, Failure to thrive, Decreased circulatin...	OMIM:608809
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Decreased s...	OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 17	Eczema, Failure to thrive, Recurrent otitis media, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Growth delay, Tetraplegia, Hyperactivity, Hypertonia, Cerebral atrophy, Lethargy	OMIM:274270
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Cerebral cortical atrophy, Bronchiectasis	ORPHA:1164
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s...	OMIM:616648
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	OMIM:251190
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetr...	OMIM:615924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm...	OMIM:617519
Huntington Disease-Like 3	Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f...	ORPHA:157946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Developmental And Epileptic Encephalopathy 66	Anemia, Cryptorchidism, Neutropenia	OMIM:618067
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, Spasticity, Low-set ears	OMIM:618718
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Griscelli Syndrome Type 2	Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis	ORPHA:79477
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Autism	EEG abnormality, Stereotypy	OMIM:209850
Autism, Susceptibility To, X-Linked 3	EEG abnormality, Stereotypy	OMIM:300496
Autism, Susceptibility To, 8	EEG abnormality, Stereotypy	OMIM:607373
Autism, Susceptibility To, X-Linked 1	EEG abnormality, Stereotypy	OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome	EEG abnormality, Stereotypy	OMIM:608636
Reticular Dysgenesis	Leukopenia, Chronic otitis media, Anemia, Hearing impairment, Abnormality of neutrophils	ORPHA:33355
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hearing impairment, Papilledema, Hepatosplenome...	OMIM:607115
Immunodeficiency With Hyper-Igm, Type 1	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:308230
Mental Retardation, Autosomal Dominant 7	Gait disturbance, Intrauterine growth retardation, Short stature, Birth length less than 3rd perc...	OMIM:614104
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural...	OMIM:125250
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Stereotypical hand wringing, Macrotia, Hyperkinetic movements	ORPHA:397933
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Stereotypy	OMIM:617787
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr...	OMIM:300291
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea, Abnormal head movements	OMIM:616939
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio...	OMIM:601596
Developmental And Epileptic Encephalopathy 97	Tremor, Stereotypical hand wringing, Hypsarrhythmia	OMIM:619561
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short stature	DECIPHER:19
Immunodeficiency 25	Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:610163
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Eosinophilia, Lymphopenia	ORPHA:2582
Smith-Magenis syndrome	Hyperactivity, Short stature, Stereotypy	DECIPHER:8
Sebastian syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Cerebellar atrophy, Intrauterine growth retardation, Hearing impairment, Tetrapleg...	ORPHA:369939
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ...	ORPHA:35078
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Mental Retardation, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617600
Lichtenstein Syndrome	Decreased circulating IgA level, Neutropenia	OMIM:246550
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:275350
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cerebral atrophy, Difficulty walking, Spasticity, Stereotypy	OMIM:617393
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Failure to thrive, Reduced...	OMIM:242860
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Ogden Syndrome	Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Hypertonia, Postnatal growth reta...	ORPHA:276432
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Mu-Heavy Chain Disease	Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ...	ORPHA:100024
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Neutropenia, Stomatitis, Failure to thrive, Megaloblastic anemia, Low-set ears, Skin rash, Microt...	OMIM:277380
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Chediak-Higashi Syndrome	Neutropenia, Leukopenia, Lymphadenopathy, Neurodegeneration, Abnormal dense granules, Giant neutr...	OMIM:214500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Attention deficit hyperactivity disorder, Stereotypy	OMIM:618709
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I...	ORPHA:3243
Mental Retardation, Autosomal Dominant 33	Hyperactivity, Short stature	OMIM:616311
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Increased circulating IgA le...	OMIM:618534
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea...	OMIM:303110
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre...	OMIM:600802
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Failure to thrive, Chronic...	OMIM:209920
Acute Myelomonocytic Leukemia	Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidia...	OMIM:618282
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment	OMIM:248510
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
N-Acetylaspartate Deficiency	Unsteady gait, Truncal ataxia, Short stature, Stereotypy	OMIM:614063
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular a...	ORPHA:3240
Pendred Syndrome	Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation	OMIM:274600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An...	ORPHA:508542
Cohen Syndrome	Optic atrophy, Neutropenia, Leukopenia, Small for gestational age, Decreased response to growth h...	OMIM:216550
Autism Spectrum Disorder Due To Auts2 Deficiency	Short stature, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hyperto...	ORPHA:352490
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin...	OMIM:618523
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk	OMIM:618090
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Hearing imp...	ORPHA:2169
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenomegaly, Abnormal mac...	ORPHA:2585
Mental Retardation, Autosomal Recessive 37	Hyperactivity, Spasticity	OMIM:615493
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Weight loss, Anemia, Vertigo,...	ORPHA:520
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel...	ORPHA:98850
Intellectual Developmental Disorder, X-Linked 109	Intrauterine growth retardation, Short stature, Poor coordination, Hyperactivity, Stereotypical b...	OMIM:309548
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Chronic otitis media, Lymphadenopathy, Weight loss, Bone marrow hyp...	ORPHA:3226
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Spasticity	ORPHA:356996
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Failure to thrive, Redu...	OMIM:102700
Mitochondrial Myopathy With Lactic Acidosis	Dystonia, Growth delay, Dysmetria, Hemiparesis, Postnatal growth retardation, Tip-toe gait, Spast...	OMIM:251950
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Myh9-Related Disease	Neutrophil inclusion bodies, Increased mean platelet volume, Sensorineural hearing impairment, Gi...	ORPHA:182050
Christianson Syndrome	Dystonia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereotypy, Trun...	ORPHA:85278
Syngap1-Related Developmental And Epileptic Encephalopathy	Gait disturbance, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Tr...	ORPHA:544254
Fusariosis	Brain abscess, Abnormality of the spleen, Sinusitis, Neutropenia, Lung abscess, Pneumonia, Bronch...	ORPHA:228119
Whim Syndrome	Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ...	ORPHA:51636
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Cerebellar atrophy, Ataxia	OMIM:613402
Mental Retardation, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Stereotypy	OMIM:606053
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Failure to th...	OMIM:606367
Spinocerebellar Ataxia Type 36	Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Vertigo, Fasciculations, Hearing impairmen...	ORPHA:276198
Hemophagocytic Syndrome Associated With An Infection	Abnormal inflammatory response, Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, A...	ORPHA:158048
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia, Failure to thrive	OMIM:615387
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel...	ORPHA:247815
Aspergillosis	Sinusitis, Neutropenia, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli...	ORPHA:1163
Baker-Gordon Syndrome	Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin...	OMIM:618218
Guanidinoacetate Methyltransferase Deficiency	Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movement...	ORPHA:382
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 88	Eosinophilia	OMIM:619630
Hermansky-Pudlak Syndrome 2	Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate...	OMIM:608233
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ...	ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Eosinophilia, Pneumonia	OMIM:617638
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin...	ORPHA:90646
Candidiasis, Familial, 2	Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia	OMIM:212050
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atrophy of the...	ORPHA:99027
Jeavons Syndrome	EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu...	ORPHA:139431
Shwachman-Diamond Syndrome	Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Hearing impairment, Pancytopenia...	ORPHA:811
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Neutropenia, Optic nerve hypoplasia, Bone marrow hypocellularity, ...	OMIM:609053
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Neutropenia, Anemia, Cerebral atrophy, Thrombocytopenia, Cryptorchidism	OMIM:614857
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Severe Intellectual Disability And Progressive Spastic Paraplegia	Dystonia, Babinski sign, Cerebellar atrophy, Short stature, Spastic dysarthria, Stereotypy, Waddl...	ORPHA:280763
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutropil anti...	ORPHA:37042
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat...	OMIM:242900
Intellectual Developmental Disorder, Autosomal Recessive 71	Hyperactivity, Attention deficit hyperactivity disorder, Macrotia, Stereotypy	OMIM:618504
Juvenile Huntington Disease	Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressi...	ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment	OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 54	Hyperactivity	OMIM:617028
Schizophrenia 15	Hyperactivity	OMIM:613950
Selective Igm Deficiency	Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,...	ORPHA:331235
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Sensorineural he...	ORPHA:504476
Late-Infantile/Juvenile Krabbe Disease	Clumsiness, Frequent falls, Decreased nerve conduction velocity, Lower limb spasticity, Tremor, T...	ORPHA:206443
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia,...	OMIM:266265
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Sensorineural hearing impairment, Hyperactivity, Short stature, Low-set ears	OMIM:618342
Diamond-Blackfan Anemia 7	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Recurrent otitis media, Esopha...	OMIM:612562
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Pneumonia, Lymph node hypoplasia, Decreased circulating Ig...	ORPHA:276
Mental Retardation, Autosomal Recessive 61	Babinski sign, Posteriorly rotated ears, Hyperactivity, Spasticity, Low-set ears	OMIM:617773
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Neutropenia, Leukopenia, Nephritis, Anemia, Bone marrow hypocellularity, Splenomeg...	OMIM:617303
Lamb-Shaffer Syndrome	Optic atrophy, Mild postnatal growth retardation, Stereotypy, Hyperactivity, Ataxia, Upper motor ...	ORPHA:530983
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia	OMIM:619150
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Dystonia, Optic atrophy, Abnormality of the pinna, Stereotypy, Spasticity, Unsteady gait, Gait at...	OMIM:617807
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Recurrent aspiration pneumonia, Absence of lymph node germinal cent...	ORPHA:79124
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia	OMIM:617113
Cartilage-Hair Hypoplasia	Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco...	OMIM:250250
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ...	OMIM:307200
Propionic Acidemia	Eczema, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Cerebral atrophy, Pancytopenia, Thr...	OMIM:606054
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Snijders Blok-Campeau Syndrome	Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait, Low-set ears	OMIM:618205
Branchiootic Syndrome 1	Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura...	OMIM:602588
Coffin-Siris Syndrome 7	Short stature, Recurrent otitis media, Macrotia, Posteriorly rotated ears, Hearing impairment, Hy...	OMIM:618027
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gait disturbance, Upper limb spasticity, Short stature, Macrotia, Stereotypy, Tremor, Hyperkineti...	ORPHA:457240
Intellectual Developmental Disorder, Autosomal Recessive 58	Stereotypy, Spastic diplegia, Short stature, Choreoathetosis	OMIM:617270
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Obesity	OMIM:234350
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Autoimmune hemolytic anemia	OMIM:243150
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Malar rash, Maculopapular exanthema, Skin ra...	ORPHA:398124
Immunodeficiency 49	Inflammatory abnormality of the skin, Eosinophilia, Posteriorly rotated ears, Lymphopenia	OMIM:617237
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Neutropenia, Small for gestational age, Failure to thrive, Abnormality of the...	OMIM:615471
Asperger Syndrome, X-Linked, Susceptibility To, 2	Stereotypy	OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1	Stereotypy	OMIM:300494
Asperger Syndrome, Susceptibility To, 1	Stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Stereotypy	OMIM:608631
Hermansky-Pudlak Syndrome 10	Neutropenia, Macrotia, Splenomegaly, Cerebral atrophy, Low-set ears	OMIM:617050
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Leber Congenital Amaurosis 1	Sensorineural hearing impairment, Growth delay, Eye poking	OMIM:204000
Macrosomia Adiposa Congenita	Obesity, Eosinophilia, Large for gestational age	OMIM:248100
Congenital Enterovirus Infection	Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A...	ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:614520
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Stereotypy	OMIM:239500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Facial palsy, Myositis	OMIM:253600
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Xq28 (MECP2) duplication	Progressive spasticity, Macrotia, Stereotypy, Inability to walk, Gait ataxia	DECIPHER:45
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Atypical Rett Syndrome	Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Growth delay, Impaired pain se...	ORPHA:3095
Fanconi Anemia, Complementation Group E	Neutropenia, Small for gestational age, Leukemia, Anemia, Hearing impairment, Reticulocytopenia, ...	OMIM:600901
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea...	ORPHA:1215
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia	OMIM:245348
Pendred Syndrome	Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen...	ORPHA:705
Autosomal Recessive Non-Syndromic Intellectual Disability	EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp...	ORPHA:88616
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia...	OMIM:613179
Xq21 Microdeletion Syndrome	Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Growth delay, St...	ORPHA:1435
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Pancy...	OMIM:603553
Fanconi Anemia, Complementation Group A	Neutropenia, Small for gestational age, Leukemia, Anemia, Hearing impairment, Reticulocytopenia, ...	OMIM:227650
Roifman Syndrome	Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosple...	ORPHA:353298
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Otitis media, Thro...	ORPHA:229717
Coffin-Siris Syndrome 6	Conductive hearing impairment, Short stature, Low-set, posteriorly rotated ears, Stereotypy, Tics...	OMIM:617808
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, Pneumonia, Lymphadenopathy, Recurrent otitis media, Autoimmune thrombocytopenia, Rhe...	OMIM:607944
Foxg1 Syndrome	Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Myoclonus, Stereot...	ORPHA:561854
Smith-Magenis Syndrome	Morphological abnormality of the middle ear, Short stature, Impaired pain sensation, Stereotypy, ...	OMIM:182290
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	ORPHA:3261
Cln5 Disease	Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the...	ORPHA:228360
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Prominent ear helix, Myoclonus, Stereotypy, Inability to walk, Occipital cortical ...	ORPHA:411986
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr...	OMIM:147060
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy...	OMIM:616100
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Small ...	ORPHA:1830
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Failure to thriv...	ORPHA:911
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula...	OMIM:619632
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Hypertonia, Intrauterine growth retardation, Spastic tetraplegia, Stereotypy	OMIM:615282
Sepsis In Premature Infants	Leukocytosis, Increased circulating interleukin 6, Neutropenia, Small for gestational age, Anemia...	ORPHA:90051
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,...	OMIM:618917
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy	OMIM:612069
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Abnormal size of pituitary gland, Bronchiectasis, Failure to thrive, Dec...	ORPHA:293978
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce...	OMIM:619375
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Opisthotonus, Neutropenia, Bone marrow hypocellularity, Cerebral atrophy, Inf...	ORPHA:445038
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Short stature, Recurrent otitis media, Hyperactivity, Brain atrophy, Spasticity	OMIM:615286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo...	OMIM:600795
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia	OMIM:242700
4Q21 Microdeletion Syndrome	Intrauterine growth retardation, Growth delay, Stereotypy, Tremor, Hearing impairment, Low-set ears	ORPHA:238750
Fanconi Anemia, Complementation Group C	Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Hearing im...	OMIM:227645
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Acute leukemia, Chronic otit...	ORPHA:906
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Spasticity, Broad-based gait, Hearing impairment	ORPHA:457260
Developmental And Epileptic Encephalopathy 30	Hypsarrhythmia, Stereotypy	OMIM:616341
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Eosinophilia, Eczema	OMIM:243700
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Stereotypical hand wringing, Spasticity, Cerebral atrophy	ORPHA:500545
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C...	OMIM:618394
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Sensorineural hearing i...	ORPHA:760
Autoinflammatory Syndrome, Familial, Behcet-Like	Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia	OMIM:616744
Neurodegeneration With Brain Iron Accumulation 2B	Dystonia, Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration,...	OMIM:610217
Juvenile Neuronal Ceroid Lipofuscinosis	Clumsiness, Optic disc pallor, Myoclonic spasms, Cerebellar atrophy, Poor motor coordination, Ste...	ORPHA:79264
Immunodeficiency 31C	Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia	OMIM:614162
Adult Krabbe Disease	Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Frequen...	ORPHA:206448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start...	ORPHA:320406
Mental Retardation, Autosomal Dominant 48	Sensorineural hearing impairment, Low-set ears, Abnormality of the pinna, Stereotypy	OMIM:617751
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis	OMIM:604317
Macrocephaly/Autism Syndrome	Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Hearing imp...	OMIM:619580
Methylmalonic Aciduria, Cbla Type	Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia	OMIM:251100
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Protruding ear, Short stature, Optic nerve hypoplasia, Hearing impairment, Repetit...	ORPHA:401777
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Recurrent hand flapping, Macrotia, Cerebral atrophy	OMIM:617268
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ...	ORPHA:73272
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Short stature, Stereotypy	ORPHA:391307
Gm2 Gangliosidosis, Ab Variant	Dystonia, Short stature, Chorea, Neurodegeneration, Exaggerated startle response, Postnatal growt...	ORPHA:309246
Myopathy With Extrapyramidal Signs	Clumsiness, Dystonia, Optic atrophy, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chore...	OMIM:615673
Nijmegen Breakage Syndrome	Sinusitis, B lymphocytopenia, Bronchiectasis, Neurodegeneration, Macrotia, Dysgammaglobulinemia, ...	OMIM:251260
Dentatorubral Pallidoluysian Atrophy	Involuntary movements, Impaired proprioception, Optic neuropathy, Dyssynergia, Choreoathetosis, D...	ORPHA:101
X-Linked Lymphoproliferative Disease	Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody...	ORPHA:2442
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Necrotizing Enterocolitis	Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Thrombocytopenia	ORPHA:391673
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Babinski sign, Abnormal cranial nerve morphology, Rigidity, Shuffling gait, Intention tremor, Ata...	ORPHA:247234
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Dystonia, Growth delay, Choreoathetosis, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia, Spast...	OMIM:612716
Shwachman-Diamond Syndrome 2	Normocytic anemia, Neutropenia, Failure to thrive, Hyperechogenic pancreas, Low-set ears, Thrombo...	OMIM:617941
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Anemia, Pseudopapilledema, Abnormal granulocyte morphology, Spleno...	ORPHA:1451
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Failure to thrive, Megaloblastic anemia, Macrotia, Low-set ears, Thrombocytopenia, C...	OMIM:277400
Mental Retardation, Autosomal Dominant 40	Low-set ears, Gait ataxia, Impaired pain sensation, Stereotypy	OMIM:616579
Tay-Sachs Disease	Clumsiness, Gait disturbance, Dystonia, Optic atrophy, Progressive spasticity, Cerebellar atrophy...	ORPHA:845
Isolated Anencephaly	Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia	ORPHA:563609
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Caudate atrophy, Neuronal loss in central nervous system, Myoclonus, Tre...	ORPHA:363400
Chédiak-Higashi Syndrome	Abnormal natural killer cell morphology, Cerebellar atrophy, Neutropenia, Thrombocytopenia, Lymph...	ORPHA:167
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ...	OMIM:616084
Intellectual Developmental Disorder, X-Linked 30	Clumsiness, Hyperactivity, Macrotia, Short stature	OMIM:300558
Dohle Bodies And Leukemia	Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies	OMIM:223350
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia...	ORPHA:529808
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia...	ORPHA:529799
Thymic Aplasia	Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi...	ORPHA:83471
Ataxia-Telangiectasia	Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope...	OMIM:208900
Spastic Paraplegia 29, Autosomal Dominant	Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impair...	OMIM:609727
Mental Retardation With Language Impairment And With Or Without Autistic Features	Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy	OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Short stature, Abnormality of the pinna, Tremor, Hyperactivity, Cerebellar vermis atrophy, Gait a...	OMIM:300354
Icf Syndrome	Decreased circulating antibody level, Anemia, Lymphopenia, Low-set ears, Abnormality of neutrophils	ORPHA:2268
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Stomatitis, Failure to thrive, Megaloblastic anemia, Skin rash	ORPHA:79284
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas...	OMIM:617099
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia	OMIM:602450
X-Linked Adrenoleukodystrophy	Progressive hearing impairment, Gait disturbance, Clumsiness, Paralysis, Paraparesis, Progressive...	ORPHA:43
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia, Esophagitis	OMIM:610247
Cerebral Creatine Deficiency Syndrome 1	Dystonia, Gait disturbance, Aganglionic megacolon, Short stature, Poor hand-eye coordination, Ste...	OMIM:300352
Rubinstein-Taybi Syndrome 2	Hyperactivity, Posterior helix pit	OMIM:613684
Immunodeficiency 36	Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L...	OMIM:616005
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Low-set, posteriorly rotated ears, Growth delay, Stereotypy	ORPHA:3306
Ataxia-Telangiectasia	Failure to thrive, Decreased circulating antibody level, Polycystic ovaries, Abnormal testis morp...	ORPHA:100
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Babinski sign, Growth delay, Scissor gait, Dysmetria, Facial diplegia, Spastic gait, Spastic tetr...	OMIM:619121
Cri-Du-Chat Syndrome	Optic atrophy, Growth delay, Abnormality of the pinna, Hearing impairment, Stereotypy, Hyperactiv...	OMIM:123450
Common Variable Immunodeficiency	Failure to thrive in infancy, Pneumonia, Bronchiectasis, Chronic otitis media, Lymphadenopathy, D...	ORPHA:1572
Intellectual Developmental Disorder, X-Linked 107	Abnormality of superior crus of antihelix, Macrotia, Hyperactivity, Prominent crus of helix, Atte...	OMIM:301013
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Chorea, Stereotypical hand wringing, EEG abnormality	OMIM:618760
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Failure to thrive...	OMIM:615934
Dilated Cardiomyopathy With Ataxia	Dystonia, Optic atrophy, Intrauterine growth retardation, Growth delay, Atrophy/Degeneration affe...	ORPHA:66634
Cohen Syndrome	Optic atrophy, Failure to thrive in infancy, Neutropenia, Sensorineural hearing impairment, Aplas...	ORPHA:193
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Eosinophilia, Increased circulating antibody level	ORPHA:99965
Ck Syndrome	Hyperactivity, Posteriorly rotated ears	ORPHA:251383
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia	OMIM:619553
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons...	OMIM:601775
Lymphoproliferative Syndrome 1	Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating a...	OMIM:613011
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased...	OMIM:615952
Noonan Syndrome 12	Atopic dermatitis, Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymph...	OMIM:618624
Shwachman-Diamond Syndrome 1	Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A...	OMIM:260400
Roifman Syndrome	Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinophilia	OMIM:616651
Developmental And Epileptic Encephalopathy 6B	Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic...	OMIM:619317
X-Linked Cerebral Adrenoleukodystrophy	Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Global brain atrophy, Lower limb spas...	ORPHA:139396
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay	Neutropenia, Bronchiectasis, Anemia, Acute myeloid leukemia, Low-set ears, Decreased body weight,...	OMIM:601347
Fanconi Anemia, Complementation Group D2	Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Bone marrow hypocellularity, ...	OMIM:227646
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

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