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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 (920 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	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	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	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	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	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia-Monocytopenia-Deafness Syndrome	Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Conductive hearing impairment, Sensorineural hearing impairment, Ne...	OMIM:610738
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, T lymphocyto...	OMIM:608971
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Opticocochleodentate Degeneration	Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment	OMIM:258700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa...	OMIM:601457
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Fraxe Intellectual Disability	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, ...	ORPHA:100973
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Abno...	OMIM:598500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio...	OMIM:620270
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal cent...	ORPHA:277
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Decreased nerve conduction velocity, Acute myelomonocytic leuke...	OMIM:159550
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Anemia, Hydrocele testis, Neutropenia, Congenital thrombocytope...	OMIM:616738
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa...	OMIM:300983
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Tremor, Prelingual sensorineural hearing im...	ORPHA:52368
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Specific Granule Deficiency 2	Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Recurre...	OMIM:617475
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy...	OMIM:619470
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch...	ORPHA:33110
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Spastic diplegia	OMIM:617830
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineural hearing...	ORPHA:47
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodie...	OMIM:607594
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Lymphadenopathy, I...	ORPHA:397596
Immunodeficiency 7	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphaden...	OMIM:615387
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Atrophy...	OMIM:617862
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:301078
Familial Isolated Dilated Cardiomyopathy	Sensorineural hearing impairment, Abnormality of neutrophils	ORPHA:154
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Autism, Susceptibility To, X-Linked 3	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:300425
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Thrombocyt...	ORPHA:540
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears	ORPHA:436151
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating ...	OMIM:618108
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope...	ORPHA:158061
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Optic atrophy, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abscess, Eosinophi...	OMIM:615816
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Bruxism, Self-injurious behavior, Brain atrophy, Low-se...	OMIM:618718
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa...	ORPHA:2686
Episodic Ataxia Type 4	Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls	ORPHA:79136
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Optic atrophy, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia	ORPHA:79312
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Abnormal head movements, Incoordination, Involuntary movements,...	ORPHA:157941
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci...	OMIM:618459
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total Ig...	OMIM:619510
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Hsd10 Disease	Ataxia, Tremor, Postnatal growth retardation, Rigidity, Optic atrophy, Dysphagia, Frontotemporal ...	ORPHA:391417
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Eczematoid dermatiti...	OMIM:619693
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Low-set ears, Neutropenia...	OMIM:616395
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Weight loss,...	ORPHA:47612
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma...	ORPHA:158057
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Ravine Syndrome	Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Short stature, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-...	OMIM:617695
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive...	OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Abnormal pinna morphology, Short stature, Ataxia, Birth length les...	OMIM:614104
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Cerebral cortical atrophy, Weight loss	ORPHA:1164
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D...	OMIM:619150
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical ...	OMIM:309548
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus...	OMIM:619092
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, S...	OMIM:602450
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A...	ORPHA:369939
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Reticular Dysgenesis	Abnormality of neutrophils, Leukopenia, Chronic otitis media, Anemia, Hearing impairment	ORPHA:33355
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Intellectual Developmental Disorder, X-Linked 72	Abnormal repetitive mannerisms, Hyperactivity, Short stature	OMIM:300271
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomat...	OMIM:615966
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Mixed hearing impairment, Neutropenia	OMIM:620012
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behav...	OMIM:617270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy,...	OMIM:607115
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Smith-Magenis syndrome	Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation	DECIPHER:8
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Growth dela...	OMIM:619422
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Bruxism, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus,...	OMIM:618497
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni...	OMIM:301107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Low-set...	OMIM:242860
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal...	OMIM:617820
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level...	OMIM:243700
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy, Tetraplegia, Cerebral atrophy, Growth delay, Hypertonia	OMIM:274270
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Cer...	OMIM:617435
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis...	OMIM:615924
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Huntington Disease-Like 3	Abnormal head movements, Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Cho...	ORPHA:157946
N-Acetylaspartate Deficiency	Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, S...	OMIM:614063
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Optic atrophy, Bronchiectasis, Aspiration pneumonia, Neutropenia	OMIM:618253
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Christianson Syndrome	Cerebellar atrophy, Truncal ataxia, Dysphagia, Gait ataxia, Neuronal loss in central nervous syst...	ORPHA:85278
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Aggressive behavior, Tremor, Sensorineural hearing impairment, Brux...	OMIM:618342
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Posteriorly ...	OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Increased circu...	OMIM:603909
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba...	OMIM:600795
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulating antibody...	ORPHA:100024
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Atresia of the external auditory canal, Bone marrow hypocellular...	OMIM:614900
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I...	OMIM:618048
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears...	OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Brain atrophy, Neutropenia, F...	ORPHA:2169
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Decreased nerve conduction velocity, Thrombocytopenia,...	OMIM:214500
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Spl...	ORPHA:2585
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Short stature, Repetitive compulsive behavior, Hypertonia, Low-set...	ORPHA:352490
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu...	OMIM:209920
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Vertigo, Weight loss, Anemia, Leukopenia, Lymphadenopathy, Neutropeni...	ORPHA:520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma...	ORPHA:508542
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:98850
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media,...	OMIM:266265
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat...	OMIM:102700
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Vertigo, Sensorineural hearing impairment,...	ORPHA:3226
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Optic atrophy, ...	OMIM:216550
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Short stature, Optic nerve hypoplasia...	OMIM:617302
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior	OMIM:617171
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ...	OMIM:618282
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ...	ORPHA:228119
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, B lymphocytopenia, Cerebral atrophy	OMIM:619851
Myh9-Related Disease	Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc...	ORPHA:182050
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D...	ORPHA:90646
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok...	ORPHA:158048
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repe...	OMIM:612069
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea, Involuntary movements	OMIM:616939
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Ogden Syndrome	Abnormal head movements, Torticollis, Postnatal growth retardation, Cerebral atrophy, Hypertonia,...	ORPHA:276432
Barth Syndrome	Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failu...	OMIM:302060
Immunodeficiency 88	Eosinophilia	OMIM:619630
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br...	ORPHA:1163
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Small for gestational age, Skin rash, Megaloblastic anemia, Anemia, Microtia, Low-s...	OMIM:277380
Propionic Acidemia	Pancytopenia, Eczema, Cerebral atrophy, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thr...	OMIM:606054
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph...	ORPHA:51636
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Short stature, Babinski sign, Spastic dysarthria, Difficulty w...	ORPHA:280763
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Hermansky-Pudlak Syndrome 10	Dystonia, Splenomegaly, Cerebral atrophy, Low-set ears, Neutropenia, Macrotia	OMIM:617050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, G...	OMIM:618090
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha...	OMIM:618917
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total IgM, Leukopenia...	OMIM:620210
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp...	OMIM:608233
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Foxg1 Syndrome	Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ...	ORPHA:561854
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ...	OMIM:616005
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Spastic tetraplegia, Self-injurious behavior, Hypertonia, Intrauterine growth retardation, Abnorm...	OMIM:615282
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Neutropenia, Bone ...	OMIM:609053
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Tubulointerstitial nephritis, Neutropenia, Failure to thrive, Pancreatitis, Thrombocy...	OMIM:251000
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Eso...	OMIM:612562
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady...	ORPHA:248111
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Ataxia, Optic atrophy, Abnormal temper tantrums...	ORPHA:530983
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Cerebral atrophy, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocyt...	OMIM:614857
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Absence of lymph node germ...	ORPHA:79124
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Chronic oral candidiasis, ...	ORPHA:276
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,...	OMIM:620292
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a...	ORPHA:436159
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Macrotia, Abnormal repetitive ...	DECIPHER:45
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def...	OMIM:613670
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Hyperechogenic pancreas, Pancreati...	OMIM:617052
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Optic atrophy, Increased circulating IgM lev...	OMIM:617303
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ...	OMIM:617807
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Anemia, Neutropenia	OMIM:618067
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia,...	ORPHA:457240
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro...	ORPHA:247815
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu...	OMIM:603553
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c...	OMIM:609924
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly...	ORPHA:398124
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Short stature, Aggressive behavior, Brain atrophy, Recurrent otitis media, Spasticity	OMIM:615286
7Q31 Microdeletion Syndrome	Speech apraxia, Torticollis, Hyperactivity, Postnatal growth retardation, Hypoplasia of the cochl...	ORPHA:251061
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting...	OMIM:619580
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dy...	OMIM:618004
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Facial palsy, Eosinophilia	OMIM:253600
Sneddon Syndrome	Tremor, Lymphopenia, Facial palsy	OMIM:182410
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, ...	OMIM:600901
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Anemia, Leukopen...	ORPHA:292
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumonitis, Chronic...	OMIM:616433
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Choreoathetosis, Bone marrow hypocellularity,...	ORPHA:445038
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Pneumonia, Pure red cell aplasia, Auto...	OMIM:613179
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Smith-Magenis Syndrome	Hyperactivity, Short stature, Impaired pain sensation, Abnormality of the outer ear, Self hugging...	OMIM:182290
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici...	OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Apraxia, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic parap...	OMIM:300055
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment	ORPHA:457260
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Otitis media...	ORPHA:229717
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Low-set ears, Neutrop...	OMIM:607944
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growth retardation, Abn...	ORPHA:238750
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Aggressive behavior, Clumsiness, Agitation, Macrotia	OMIM:300558
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Opis...	OMIM:103050
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, ...	OMIM:227650
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sensorineural hearing impairment...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Clonus, Aggressive behavior, Unsteady gait, Babinski sig...	OMIM:617773
Roifman Syndrome	Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev...	ORPHA:353298
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Leukopenia...	OMIM:616271
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Minimal change glomerulonephritis, Thrombocytopenia...	ORPHA:1830
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Incoordination, Somatic sensory dysfunction, Hyperactivity, Paralysis, Aggres...	ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Short stature, Aggressive behavior, Sensorineural hearing impa...	OMIM:600430
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Small for gestational age, Splenomegaly, Leuko...	ORPHA:90051
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia, Ocul...	OMIM:612716
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Small for gestational age, Abnormal pinna morphology, Cerebral atrophy, Protr...	OMIM:615471
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,...	OMIM:245348
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Cerebral at...	OMIM:610217
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Coffin-Siris Syndrome 6	Short stature, Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity diso...	OMIM:617808
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Large earlobe, Occipital cortical atrophy, Myoclonus, Abn...	ORPHA:411986
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Abnormal repetitive mannerisms, Cerebral atrophy, Spasticity	OMIM:617393
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Eczema, Microcytic anemia, Keratitis...	ORPHA:906
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Short stature, Optic nerve hypoplasia, Inability to walk, Chorea, S...	OMIM:617864
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Growth delay, F...	OMIM:619121
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ...	OMIM:618394
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow h...	OMIM:227645
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hyperechogenic pancreas, Low-set ears, Neutropenia, Failure to thrive, Thrombo...	OMIM:617941
Optic Atrophy-Intellectual Disability Syndrome	Short stature, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ...	ORPHA:401777
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Aganglionic megaco...	OMIM:250250
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C...	ORPHA:79264
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Poor coordination, Low-set ...	OMIM:618430
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor...	ORPHA:760
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Saul-Wilson Syndrome	Sensorineural hearing impairment, Hearing impairment, Neutropenia	OMIM:618150
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Clumsiness, ...	ORPHA:845
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,...	OMIM:609541
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, G...	OMIM:123450
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Low-set ears, Lymphopenia, Anemia	ORPHA:2268
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,...	OMIM:617802
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Short stature, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, ...	OMIM:617101
Cinca Syndrome	Abnormality of neutrophils, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Lymphad...	ORPHA:1451
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t...	ORPHA:320406
Alazami Syndrome	Abnormal eating behavior, Postnatal growth retardation, Low-set ears, Abnormal repetitive manneri...	ORPHA:319671
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Short stature, Aggressive behavior, Macrotia, Abnormal repetitive mannerisms	ORPHA:391307
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Growth delay, Choreoath...	OMIM:615673
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Aganglionic megacolon, Short stature, Aggressive behavior, Unde...	OMIM:300352
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic...	OMIM:616084
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Ataxia, Spastic tetraparesis, Impulsivity, Unsteady gait, Opti...	ORPHA:35069
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Cerebellar atrophy, Pancytopenia, Decreased nerve conduction veloc...	ORPHA:167
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Short stature, Severe temper tantrums, Low-set ears, Com...	OMIM:618027
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor...	ORPHA:1435
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia, Esophagitis	OMIM:610247
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,...	OMIM:619381
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Neutropenia, Microcytic anemia	OMIM:251900
Warsaw Breakage Syndrome	Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Intraut...	OMIM:613398
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short stature, Postnatal growth retardation, Congenital sensorineural hearing impa...	ORPHA:73272
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Parietal cortical atrophy, Low-set ears, Sensorineural hea...	OMIM:620075
Cohen Syndrome	Failure to thrive in infancy, Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasi...	ORPHA:193
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitiv...	OMIM:300260
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor...	OMIM:172700
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Thrombocytope...	OMIM:613011
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growt...	ORPHA:293978
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Leukocyto...	OMIM:617099
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Neutropenia, Stomatitis, Failure to thrive	ORPHA:79284
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Short stature, Abnormal pinna morphology, Aggressive behavior, Tremor, Gait ataxia...	OMIM:300354
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Macrotia, Low-set ears, Neutropenia, Failure to thrive, Cerebral cortical a...	OMIM:277400
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocyt...	OMIM:618624
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Growth delay,...	ORPHA:3306
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Potocki-Lupski Syndrome	Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Hearing ...	OMIM:610883
Ataxia-Telangiectasia	Lymphopenia, Polycystic ovaries, Decreased circulating antibody level, Failure to thrive, Abnorma...	ORPHA:100
Macrocephaly/Autism Syndrome	Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody level, Hydrocele...	OMIM:605309
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ...	OMIM:619317
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Brain ...	OMIM:620327
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Intrauteri...	OMIM:617751
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Short stature, Ataxia, Chorea, Athetosis, Hypertonia, Dysto...	ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Ritscher-Schinzel Syndrome 4	Short stature, Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, ...	OMIM:619435
Omenn Syndrome	Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopa...	ORPHA:39041
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg...	ORPHA:1572
Roifman Syndrome	Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media	OMIM:616651
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,...	ORPHA:363400
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing...	OMIM:609727
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Cryptorchidism, Annular pancreas, Reticulocytopenia, Ane...	OMIM:227646
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment	OMIM:300958
Rett Syndrome	Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic nervous syste...	ORPHA:778
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Involuntary movements, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnorma...	ORPHA:572013
Wolcott-Rallison Syndrome	Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia	ORPHA:1667
Khan-Khan-Katsanis Syndrome	Lymphopenia, Sensorineural hearing impairment, Neutropenia, Failure to thrive, Anemia	OMIM:618460
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Lower limb spasticity, Broad-based gait, Short stature, Parkinsonism, Anorexia, H...	ORPHA:3077
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Increased circulating antibody level, Eosinophilia	ORPHA:99965
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Myositis, Skin rash, Increased circulating IgA level, Follicular hyperplasia, ...	OMIM:615934
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Postnatal growth retardation, ...	OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th...	OMIM:617388
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukoc...	OMIM:260920
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment	OMIM:620114
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Overfriendliness, Hyperactivity, Incoordination, Ataxia, Short stature, Restlessness, Aggressive ...	ORPHA:369891
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthrit...	OMIM:617591
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Incoordination, Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repet...	OMIM:616579
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Increased mean corpuscular hemoglobi...	ORPHA:33364
Netherton Syndrome	Decreased circulating IgG level, Recurrent skin infections, Eczema, Allergic rhinitis, Increased ...	OMIM:256500
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy...	OMIM:619312
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Immunodeficiency 22	Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Decreased circulating total IgM, Pann...	OMIM:615758
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis, Weight loss	ORPHA:2902
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Tremor, EEG ...	ORPHA:206443
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Int...	OMIM:608747
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Neurogenic bladder, Ataxia, Optic atrophy, Tetraplegia, Dysphagia, Growth del...	ORPHA:496641
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac...	OMIM:301029
Bilateral Generalized Polymicrogyria	Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonu...	ORPHA:208447
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Weight lo...	ORPHA:139402
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s...	ORPHA:139396
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fr...	OMIM:616977
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Growth delay, Compulsive behaviors, Attention deficit hyperactivity ...	ORPHA:1727
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Snijders Blok-Campeau Syndrome	Speech apraxia, Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity di...	OMIM:618205
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the...	ORPHA:66634
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Psoriasiform dermatitis, Optic nerve hypoplasia, Abnormal T cell subset...	ORPHA:221139
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Optic atrophy, Spasti...	OMIM:617281
Leigh Syndrome	Cerebellar atrophy, Failure to thrive, Eczema, Sensorineural hearing impairment, Optic atrophy, N...	ORPHA:506
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas...	OMIM:208900
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormal lymph node morphology, Abnormal testis morph...	ORPHA:54251
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia...	OMIM:618999
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ...	ORPHA:178320
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Oromotor apraxia, Abnormality of the ear, Attention deficit hyper...	ORPHA:391372
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Short stature, Aggressive behavior, Prominent crus of helix, Pos...	OMIM:619695
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis...	OMIM:251260
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Hypertonia...	OMIM:618914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Postnatal growth retardation, Inab...	ORPHA:300570
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve...	ORPHA:449400
Distal Deletion 10Q	Short stature, Clonus, Ataxia, Aggressive behavior, Postnatal growth retardation, Congenital sens...	ORPHA:96148
2Q23.1 Microdeletion Syndrome	Hyperactivity, Short stature, Ataxia, Polyphagia, Growth delay, Self-injurious behavior, Abnormal...	ORPHA:228402
3-Methylglutaconic Aciduria, Type Viii	Tremor, Sensorineural hearing impairment, Neutropenia, Cerebral atrophy, Dystonia	OMIM:617248
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti...	ORPHA:10
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:620141
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Anemia	ORPHA:2070
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Short stature, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, ...	OMIM:620023
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Spasticity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Short stature, Growth delay, Intrauterine growth retardation, Abnormal repeti...	OMIM:618347
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Mediastinal lymphadenopath...	ORPHA:73263
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Short stature, Posteriorly rotated ears, Self-injurious behavior, Hyperton...	OMIM:601853
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec...	OMIM:617903
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Vertigo, Interstitial pneumonitis, Granulocytopenia, Lympho...	ORPHA:454831
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Pancreatic fibr...	OMIM:557000
13Q12.3 Microdeletion Syndrome	Hyperactivity, Short stature, Impaired pain sensation, Chronic otitis media, Intrauterine growth ...	ORPHA:412035
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Low-set ears, ...	ORPHA:79282
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Posteriorly rotated ears, Aggressive behavior, Postnatal growth retardation, Senso...	OMIM:212066
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia	OMIM:617301
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Apraxia, Spasticity, Abno...	OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Pancytopenia, Failure to thrive in infancy, Cholangitis, Hyper...	ORPHA:228426
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus	OMIM:214110
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivit...	ORPHA:261197
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m...	ORPHA:2314
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Aganglionic megacolon, Macrotia, Decreased circulating antibod...	ORPHA:175
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Babinski sign, Cerebral atrophy, Prominent antihelix, Hypertonia, Inappropriate la...	OMIM:615802
Chromosome 15Q11.2 Deletion Syndrome	Short stature, Ataxia, Clumsiness, Compulsive behaviors, Attention deficit hyperactivity disorder...	OMIM:615656
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m...	ORPHA:500159
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Ag...	OMIM:616364
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Cervical lymphadenopathy, Myocardi...	ORPHA:50918
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Neutropenia	OMIM:618005
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Small for gestational age, Microcytic anemia, T lymphocytopenia, Progre...	ORPHA:2959
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Angelman Syndrome	Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit...	ORPHA:72
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit...	ORPHA:168491
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ...	ORPHA:521426
Ocular Motor Apraxia	Oculomotor apraxia, Jerky head movements	OMIM:257550
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Brain atrophy, Limb...	ORPHA:457351
Hijazi-Reis Syndrome	Lower limb spasticity, Postnatal growth retardation, Ankle clonus, Gait disturbance, Abnormal rep...	OMIM:301094
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Optic atrophy, Hep...	OMIM:615688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Decrea...	OMIM:620005
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Small for gestational age, Severe periodontitis, Abnormal isohemagglutinin level, M...	ORPHA:99843
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, M...	ORPHA:829
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:617527
Brain-Lung-Thyroid Syndrome	Hyperactivity, Incoordination, Short stature, Ataxia, Involuntary movements, Abnormal eating beha...	ORPHA:209905
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Large for gestational age, Sensorineural hearing impairment, Protruding ea...	OMIM:617107
Reni Syndrome	Cryptorchidism, Sensorineural hearing impairment, Lymphopenia	OMIM:617575
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Tics,...	OMIM:617865
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Smith-Magenis Syndrome	Short stature, Impaired pain sensation, Self-injurious behavior, Gait disturbance, Attention defi...	ORPHA:819
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Cryptorchidism, Neutropenia, Macrotia, Hearing impairment	ORPHA:163956
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Incoordination, Posteriorly rotated ears, Short stature, Aggre...	ORPHA:468678
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Posteriorly rotated ears, Tremor, Inability to walk, Stereotypical...	OMIM:619229
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormality of cervical...	ORPHA:449427
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory ...	ORPHA:83617
Megalocornea-Intellectual Disability Syndrome	Short stature, Ataxia, Sensorineural hearing impairment, Protruding ear, Abnormal repetitive mann...	ORPHA:2479
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, ...	ORPHA:90362
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Hypertonia, Abnormal repetitive mannerisms	ORPHA:79155
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Small for gestational age, Eczema, Neutropenia	OMIM:617799
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, Poor coordination, Poor fine mo...	OMIM:620242
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, ...	ORPHA:436252
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Hepatosplenomegaly, Polyclonal ...	ORPHA:171
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hearing impairment, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Obesity Due To Congenital Leptin Deficiency	Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ...	ORPHA:66628
Cowden Syndrome 1	Goiter, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Ovaria...	OMIM:158350
Transketolase Deficiency	Proportionate short stature, Self-injurious behavior, Compulsive behaviors, Attention deficit hyp...	ORPHA:488618
Toxic Epidermal Necrolysis	Weight loss, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia	ORPHA:438216
Wells Syndrome	Eosinophilia	ORPHA:901
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Short stature, Abnormal pinna morphology, Impaired pain sensation, Tics, Low-set e...	ORPHA:261211
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Small for gestational age, Decreased response ...	ORPHA:699
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance...	OMIM:300986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Growth delay, Head tremor, Abnormal repetitive mannerisms, Cerebral cortical atrophy	OMIM:619428
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow hypocellularit...	ORPHA:381
Alg12-Cdg	Abnormal pinna morphology, Partial absence of specific antibody response to Haemophilus influenza...	ORPHA:79324
Obesity Due To Leptin Receptor Gene Deficiency	Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ...	ORPHA:179494
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Aggress...	ORPHA:163681
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Spastic te...	OMIM:615574
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral sensorineural hearing impairment...	ORPHA:2306
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Rothmund-Thomson Syndrome	Small for gestational age, Aplastic anemia, Skin rash, Neutropenia, Leukemia, Malar rash, Anemia	ORPHA:2909
Glycogen Storage Disease Ib	Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Neutropenia, Pancre...	OMIM:232220
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequen...	OMIM:619103
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Abnormality of extrapyramidal motor funct...	ORPHA:79255
Pediatric-Onset Graves Disease	Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Fail...	ORPHA:525731
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Generalized Pustular Psoriasis	Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosi...	ORPHA:247353
Stankiewicz-Isidor Syndrome	Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Hyperlysinemia	Neck hypertonia, Hyperactivity, Short stature, Poor motor coordination, Spastic tetraparesis, Tre...	ORPHA:2203
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Cerebral cortical atrophy, Tetraparesis	ORPHA:85277
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Optic atrophy	OMIM:614800
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac...	ORPHA:435638
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia, Large for gestational age, Sensorineural hearing impa...	ORPHA:500095
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur...	OMIM:617600
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen...	ORPHA:84064
Childhood Absence Epilepsy	Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar...	ORPHA:2388
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Protruding ear, Hypertonia...	ORPHA:447997
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, ...	ORPHA:199299
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hyposegmentation of neutrophil nuclei	ORPHA:250999
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Cystic Echinococcosis	Eosinophilia, Abscess, Abnormality of the testis size, Weight loss, Ovarian cyst, Membranous neph...	ORPHA:400
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Pancreatic cysts, Vertigo, Weight loss, Abnormal spleen...	ORPHA:284
Polyendocrine-Polyneuropathy Syndrome	Short stature, Ataxia, Postnatal growth retardation, Progressive hearing impairment, Dystonia	OMIM:616113
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li...	OMIM:608643
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Fa...	OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Short Stature, Developmental Delay, And Congenital Heart Defects	Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C...	OMIM:617044
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Aganglionic megacolon, Anemia	ORPHA:935
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pustule, Splenomeg...	OMIM:612852
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism	OMIM:620365
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri...	OMIM:610253
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Chronic Granulomatous Disease	Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy, Otitis media	ORPHA:379
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Enterocolitis, Gout, Polycystic ovaries, Ulcerative colitis, Thyroiditis, In...	ORPHA:79259
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Malar rash, Lymphadenopathy, Leukopenia, Arthritis, Micr...	ORPHA:93552
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Short stature, Ataxia, Aggr...	OMIM:614756
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Speech apraxia, Pain insensitivity, Broad-based gait, Posteriorly rotated ear...	OMIM:617330
Loeffler Endocarditis	Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Abscess, Eosinophilia, Pneumonia, Erythema nodosum, Abnor...	ORPHA:228123
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Aplastic anemia, Cryptorchidism, Neutropenia, Leukemia, Anemia	ORPHA:221008
2Q37 Microdeletion Syndrome	Short stature, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing...	ORPHA:1001
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Short stature, Impulsivity, Unilateral vocal cord paralysis, Cerebral atrophy...	OMIM:301030
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone marrow hy...	ORPHA:549
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe...	ORPHA:457279
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Protruding ear, Hypertonia, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive...	OMIM:619475
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Myoclonus, Spasticity, Cerebral cortical atrophy	OMIM:618201
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia	ORPHA:36238
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Short stature, Aggressive behavi...	ORPHA:96121
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Optic atrophy, Anemia, Macrotia, Abnormality of peri...	ORPHA:90321
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Cushing Disease	Adrenal hyperplasia, Acne, Optic nerve compression, Pituitary corticotropic cell adenoma, Leukocy...	ORPHA:96253
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set e...	OMIM:619575
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Aplastic anemia, Cryptorchidism, Neutropenia, Leukemia, Anemia	ORPHA:221016
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic...	ORPHA:909
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Postnatal growth retardation, Sensorineural hearing impairment, Cerebra...	OMIM:301040
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Head titubation, Optic atrophy, Dystonia, Lymphopenia, Intention tremor	OMIM:619708
Avian Influenza	Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia, Infectious encephalitis,...	ORPHA:454836
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,...	OMIM:610042
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Vertigo, Lymphadenopathy, Leukemia, ...	ORPHA:33226
Mirage Syndrome	Cryptorchidism, Anemia, Leukopenia, Aspiration pneumonia, Decreased body weight, Hypoplastic sple...	OMIM:617053
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Sensorineural hearing impairment, Anemia, Truncal obesity, Lymphopenia, Cerebella...	OMIM:616541
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye...	OMIM:614162
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal fifth cranial nerve morphology, Eosinophilia, Increased circulating IgG4 leve...	ORPHA:449563
Kleefstra Syndrome	Short stature, Aggressive behavior, Chronic otitis media, Self-mutilation, Self-injurious behavio...	ORPHA:261494
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Severe short stature, O...	ORPHA:468631
Wiedemann-Steiner Syndrome	Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Low-...	ORPHA:319182
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Low-set ears, Jerky head movements, Global brain atrophy, Hearing impairment	ORPHA:369837
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Inability to walk, Growth delay, Self-injurious behavior, Hypertonia, L...	OMIM:615485
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ...	OMIM:607485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Speech apraxia	ORPHA:529965
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Abnormal repetitive mannerisms, Agitation, Ataxia, Paraplegia	ORPHA:927
Pitt-Hopkins Syndrome	Incoordination, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal rep...	OMIM:610954
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia	ORPHA:861
Noonan Syndrome 14	Cryptorchidism, Lymphopenia, Posteriorly rotated ears, Low-set ears	OMIM:619745
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis	ORPHA:221
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Legius Syndrome	Hyperactivity, Short stature, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dy...	ORPHA:137605
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Decrea...	ORPHA:580
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Sandifer Syndrome	Abnormal head movements, Torticollis, Anemia	ORPHA:71272
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Orthostatic tachycardia, Rigid...	ORPHA:217253
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Speech apraxia	OMIM:617682
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Optic atrop...	OMIM:308300
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Ch...	ORPHA:3260
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hy...	ORPHA:567
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscular volume,...	OMIM:127550
Hennekam Syndrome	External ear malformation, Splenomegaly, Decreased circulating antibody level, Lymphadenopathy, L...	ORPHA:2136
Norrie Disease	Clonus, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphol...	ORPHA:649
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Prostatitis, Increased circulating I...	ORPHA:449432
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten...	OMIM:256800
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Cystinosis	Short stature, Abnormal pyramidal sign, Gait disturbance, Delayed puberty, Polydipsia, Abnormal r...	ORPHA:213
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in...	OMIM:619512
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Short stature, Cupped ear, Optic atrophy, Poor coordinat...	OMIM:309590
Digeorge Syndrome	Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Parathyroid ...	OMIM:188400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Protruding ear, Birth length less than 3rd percentile, Gait disturbance, Atten...	ORPHA:464311
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Short stature, Posteriorly rotated ears, Growth delay, Low-set ears, Attention def...	OMIM:614294
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Biliary hyperplasia, Splenomegaly, Abnormality of cytokine secretion, ...	ORPHA:567983
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp...	ORPHA:98784
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Short stature, Protruding ear, Gait disturbance, Intrauterine g...	ORPHA:464306
Kinsship Syndrome	Short stature, Spastic tetraparesis, Bruxism, Myoclonus, Brain atrophy, Low-set ears, Abnormal re...	OMIM:619297
Aspartylglucosaminuria	Acne, Vacuolated lymphocytes, Cerebral atrophy, Neutropenia, Macroorchidism	OMIM:208400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial...	ORPHA:449395
Japanese Encephalitis	Decreased motor nerve conduction velocity, Neutrophilia, Facial palsy, Paucity of anterior horn m...	ORPHA:79139
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's...	OMIM:249100
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cerebral cortical atrophy, Spasticity, Myoclonus	ORPHA:309155
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis...	ORPHA:544482
Cockayne Syndrome A	Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner...	OMIM:216400
Lujo Hemorrhagic Fever	Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Fulminant hepatitis, Leukopenia, R...	ORPHA:319213
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic qu...	OMIM:207800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin...	ORPHA:95455
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Incontinentia Pigmenti	Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Hearing abnormality, Uveitis, Infectiou...	ORPHA:464
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Sponastrime Dysplasia	Small for gestational age, Recurrent pneumonia, Neutropenia, Decreased circulating antibody level	ORPHA:93357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy	OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas...	OMIM:620330
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism...	ORPHA:235
Mend Syndrome	Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior	ORPHA:401973
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Orchitis, Splenomegaly, Leukocytosis, ...	ORPHA:99827
Arboleda-Tham Syndrome	Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Dysphag...	OMIM:616268
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi...	ORPHA:513456
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Short stature, Posteriorly rotated ears, Facial palsy, Abnormal repetitive manneri...	OMIM:615873
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Neutrop...	ORPHA:99826
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bone marrow...	ORPHA:1775
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Difficulty walking, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Niemann-Pick Disease, Type C2	Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Floating-Harbor Syndrome	Speech apraxia, Restlessness, Broad-based gait, Short stature, Impulsivity, Aggressive behavior, ...	ORPHA:2044
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Sarcoidosis	Hemolytic anemia, Parotitis, Eosinophilia, Facial palsy, Maculopapular exanthema, Erythema nodosu...	ORPHA:797
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Exaggerated startle response, Tongue fasciculations	OMIM:608800
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Myoclonus, Brain atrophy, Dysphagia, Abno...	OMIM:619777
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Vocal cord paralysis, Dysphagia, Abnormal cochl...	ORPHA:798
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se...	ORPHA:642
Joubert Syndrome 6	Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ...	ORPHA:99889
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal rep...	ORPHA:508498
Prader-Willi Syndrome Due To Translocation	Short stature, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Abno...	ORPHA:177907
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Hypereosinophilia, Vaginal hydr...	ORPHA:2035
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Short stature, Growth delay, Microtia, Lo...	OMIM:619522
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S...	ORPHA:353281
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, L...	ORPHA:99829
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Short stature, Hemiplegia/hemiparesis, Sensorineural hearing i...	ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Abnormal repetitive mannerisms, Posteriorly rotated ears, Aggressive beha...	OMIM:301066
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive, Aplasia of th...	OMIM:612132
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Short stature, Hypertonia, Dysphagia, Spasticity	OMIM:618367
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Spastic tetraparesis, Growth delay, Hypertonia, Intrauterine growth ret...	OMIM:301044
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, ...	OMIM:274000
Ogden Syndrome	Torticollis, Short stature, Postnatal growth retardation, Cerebral atrophy, Protruding ear, Growt...	OMIM:300855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Broad-based gait, Short stature, Involuntary mov...	ORPHA:438213
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Short stature, Senso...	OMIM:619325
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Short stature, Ataxia, Aggressive behavio...	OMIM:259050
Tay-Sachs Disease	Exaggerated startle response, Hypertonia	OMIM:272800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Intrauterine growth retardatio...	OMIM:619005
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Short stature, Clonus, Protruding ear, Self-injurious behavior...	ORPHA:534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353277
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms, Myoclonus	OMIM:300672
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Short stature, Sensorineural hearing impairment, Growth delay, Severe ...	OMIM:194190
Reynolds Syndrome	Erythema nodosum, Splenomegaly, Lymphopenia	OMIM:613471
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ...	OMIM:612474
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Tropical Endomyocardial Fibrosis	Splenomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia	ORPHA:75565
Charge Syndrome	Hypoparathyroidism, Mixed hearing impairment, Facial palsy, Decreased response to growth hormone ...	OMIM:214800
Viss Syndrome	Exostosis of the external auditory canal, Chronic gastritis, Posteriorly rotated ears, Eczema, Ma...	OMIM:619472
Mowat-Wilson Syndrome	Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Short statur...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Short statur...	ORPHA:261537
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t...	ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Short statur...	ORPHA:261552
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Short stature, Aggressive behavior	OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gfi1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gfi1.

No publications found that use IMPC mice or data for Gfi1.

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MGI Allele	Allele Type	Produced
Gfi1^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Gfi1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gfi1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Gfi1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Gfi1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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