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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 40
Lymphopenia OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia OMIM:615615
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Sensorineural hearing impairment ORPHA:2690
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Recurrent otitis media, Neutropenia OMIM:613501
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 19
Recurrent otitis media, Lymphopenia OMIM:615617
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency 8
Lymphopenia OMIM:615401
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Acute lymphoblastic leukemia, Ne... OMIM:610738
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure... OMIM:601495
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:613502
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment OMIM:258700
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti... OMIM:601457
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenome... OMIM:608971
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphopenia, Dec... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Failure to thrive, Recurrent ... ORPHA:277
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Sensorineural hearing imp... OMIM:598500
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
3-Methylglutaconic Aciduria, Type Vii
Cerebellar atrophy, Neutropenia, Cerebral atrophy OMIM:616271
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Cochlear degeneration, Slowed slurred speech, Progressive sensorineural hearing impairment OMIM:172500
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Cerebral atrophy, Neutropenia, Tremor OMIM:617248
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Cerebellar atrophy, Acute myelomonocytic leukemia, Anemia, Decre... OMIM:159550
Fraxe Intellectual Disability
Clumsiness, Intrauterine growth retardation, Short stature, Prominent ear helix, Hyperactivity, S... ORPHA:100973
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair... ORPHA:95433
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Failure to thrive, I... ORPHA:169154
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Reduced natural ki... OMIM:615559
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:572
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Intrauterine growth retardation, Short stature OMIM:608747
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Omenn Syndrome
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Simple ear, Failure to thrive, Recurrent otitis... OMIM:617475
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Oromandibular dystonia, Abnormal pyramidal sign, Vestibular dysfunction, Ca... ORPHA:52368
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Sensorineural hearing impairment, Congenital thrombocytopenia, Thrombocytope... OMIM:616738
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem... OMIM:617862
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Anteverted ears, Macrotia, Stereotypy, Hyperactivity OMIM:615541
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Dystonia, Short stature, Ataxia, Postnatal growth retardation OMIM:616113
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Failure to thri... ORPHA:33110
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia, Spasticity, Cerebral cort... OMIM:300983
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Abnormality of neutrophils ORPHA:154
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant ... OMIM:155100
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegal... ORPHA:158061
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Episodic Ataxia Type 4
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination ORPHA:79136
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... ORPHA:540
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis OMIM:610680
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, ... ORPHA:444463
Retinal Venous Beading
Neutropenia, Hearing impairment OMIM:180080
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Barth Syndrome
Macrotia, Granulocytopenia, Neutropenia, Failure to thrive OMIM:302060
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Cerebral atrophy OMIM:616657
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Optic Atrophy 11
Optic atrophy, Short stature, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperacti... OMIM:617302
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decrea... OMIM:618108
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Chromosome 3Q29 Deletion Syndrome
Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity, Low-set ears, Gait ataxia OMIM:609425
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent... ORPHA:2686
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Immunodeficiency 23
Conductive hearing impairment, Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Failure to... OMIM:615816
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Cataract-Ataxia-Deafness Syndrome
Short stature, Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity,... ORPHA:1368
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ... ORPHA:231169
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Jerky head movements, Fr... ORPHA:157941
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Bone marrow hypocellularity, Stenosis of the external auditory canal, Atresi... OMIM:614900
Hsd10 Disease
Gait disturbance, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Hearing impairment, Tremor... ORPHA:391417
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity, Cerebellar atrophy, Cerebral atrophy OMIM:609924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Failure to thrive secondary to recurren... ORPHA:169160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Decreased circulating antibody l... OMIM:617780
Felty Syndrome
Sinusitis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Lymphadenopa... ORPHA:47612
Immunodeficiency 85 And Autoimmunity
Eczema, Failure to thrive in infancy, Erythroderma, Decreased circulating IgA level, Oligoarthrit... OMIM:619510
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... OMIM:619092
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Pelger-Huet Anomaly
Eczema, Neutropenia, Failure to thrive, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade... OMIM:304790
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Short stature, Stereotypy OMIM:300271
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, High-frequency sensorin... OMIM:153640
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Microcytic anemia, Neutropenia OMIM:251900
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Low-set, posteriorly rotated ears, Lower limb spasticity, Exag... OMIM:618598
Pontocerebellar Hypoplasia, Type 11
Short stature, Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Broad-based ga... OMIM:617695
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Failure to thrive, Decreased circulatin... OMIM:608809
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Decreased s... OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 17
Eczema, Failure to thrive, Recurrent otitis media, Decreased proportion of CD8-positive T cells, ... OMIM:615607
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Growth delay, Tetraplegia, Hyperactivity, Hypertonia, Cerebral atrophy, Lethargy OMIM:274270
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Cerebral cortical atrophy, Bronchiectasis ORPHA:1164
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetr... OMIM:615924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... OMIM:617519
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... ORPHA:157946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia OMIM:618067
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, Spasticity, Low-set ears OMIM:618718
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Griscelli Syndrome Type 2
Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Autism
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Anemia, Hearing impairment, Abnormality of neutrophils ORPHA:33355
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hearing impairment, Papilledema, Hepatosplenome... OMIM:607115
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Intrauterine growth retardation, Short stature, Birth length less than 3rd perc... OMIM:614104
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... OMIM:125250
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia ORPHA:2582
Smith-Magenis syndrome
Hyperactivity, Short stature, Stereotypy DECIPHER:8
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebellar atrophy, Intrauterine growth retardation, Hearing impairment, Tetrapleg... ORPHA:369939
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Difficulty walking, Spasticity, Stereotypy OMIM:617393
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Failure to thrive, Reduced... OMIM:242860
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ogden Syndrome
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Hypertonia, Postnatal growth reta... ORPHA:276432
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ... ORPHA:100024
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Stomatitis, Failure to thrive, Megaloblastic anemia, Low-set ears, Skin rash, Microt... OMIM:277380
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Lymphadenopathy, Neurodegeneration, Abnormal dense granules, Giant neutr... OMIM:214500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... ORPHA:3243
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Short stature OMIM:616311
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Increased circulating IgA le... OMIM:618534
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre... OMIM:600802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Failure to thrive, Chronic... OMIM:209920
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidia... OMIM:618282
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Barth Syndrome
Abnormality of neutrophils ORPHA:111
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Short stature, Stereotypy OMIM:614063
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular a... ORPHA:3240
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... ORPHA:508542
Cohen Syndrome
Optic atrophy, Neutropenia, Leukopenia, Small for gestational age, Decreased response to growth h... OMIM:216550
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hyperto... ORPHA:352490
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... OMIM:618523
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Hearing imp... ORPHA:2169
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenomegaly, Abnormal mac... ORPHA:2585
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Weight loss, Anemia, Vertigo,... ORPHA:520
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Short stature, Poor coordination, Hyperactivity, Stereotypical b... OMIM:309548
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Chronic otitis media, Lymphadenopathy, Weight loss, Bone marrow hyp... ORPHA:3226
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Failure to thrive, Redu... OMIM:102700
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Growth delay, Dysmetria, Hemiparesis, Postnatal growth retardation, Tip-toe gait, Spast... OMIM:251950
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Sensorineural hearing impairment, Gi... ORPHA:182050
Christianson Syndrome
Dystonia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereotypy, Trun... ORPHA:85278
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Tr... ORPHA:544254
Fusariosis
Brain abscess, Abnormality of the spleen, Sinusitis, Neutropenia, Lung abscess, Pneumonia, Bronch... ORPHA:228119
Whim Syndrome
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... ORPHA:51636
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Failure to th... OMIM:606367
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Vertigo, Fasciculations, Hearing impairmen... ORPHA:276198
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, A... ORPHA:158048
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Failure to thrive OMIM:615387
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... ORPHA:247815
Aspergillosis
Sinusitis, Neutropenia, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movement... ORPHA:382
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency 88
Eosinophilia OMIM:619630
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atrophy of the... ORPHA:99027
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Hearing impairment, Pancytopenia... ORPHA:811
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Neutropenia, Optic nerve hypoplasia, Bone marrow hypocellularity, ... OMIM:609053
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Cerebral atrophy, Thrombocytopenia, Cryptorchidism OMIM:614857
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, Short stature, Spastic dysarthria, Stereotypy, Waddl... ORPHA:280763
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat... OMIM:242900
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia, Stereotypy OMIM:618504
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressi... ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... ORPHA:331235
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Sensorineural he... ORPHA:504476
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Frequent falls, Decreased nerve conduction velocity, Lower limb spasticity, Tremor, T... ORPHA:206443
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia,... OMIM:266265
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Short stature, Low-set ears OMIM:618342
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Recurrent otitis media, Esopha... OMIM:612562
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Lymph node hypoplasia, Decreased circulating Ig... ORPHA:276
Mental Retardation, Autosomal Recessive 61
Babinski sign, Posteriorly rotated ears, Hyperactivity, Spasticity, Low-set ears OMIM:617773
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Neutropenia, Leukopenia, Nephritis, Anemia, Bone marrow hypocellularity, Splenomeg... OMIM:617303
Lamb-Shaffer Syndrome
Optic atrophy, Mild postnatal growth retardation, Stereotypy, Hyperactivity, Ataxia, Upper motor ... ORPHA:530983
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia OMIM:619150
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Optic atrophy, Abnormality of the pinna, Stereotypy, Spasticity, Unsteady gait, Gait at... OMIM:617807
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Recurrent aspiration pneumonia, Absence of lymph node germinal cent... ORPHA:79124
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco... OMIM:250250
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Propionic Acidemia
Eczema, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Cerebral atrophy, Pancytopenia, Thr... OMIM:606054
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait, Low-set ears OMIM:618205
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Coffin-Siris Syndrome 7
Short stature, Recurrent otitis media, Macrotia, Posteriorly rotated ears, Hearing impairment, Hy... OMIM:618027
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Short stature, Macrotia, Stereotypy, Tremor, Hyperkineti... ORPHA:457240
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Short stature, Choreoathetosis OMIM:617270
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity OMIM:234350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Autoimmune hemolytic anemia OMIM:243150
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Malar rash, Maculopapular exanthema, Skin ra... ORPHA:398124
Immunodeficiency 49
Inflammatory abnormality of the skin, Eosinophilia, Posteriorly rotated ears, Lymphopenia OMIM:617237
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Neutropenia, Small for gestational age, Failure to thrive, Abnormality of the... OMIM:615471
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Hermansky-Pudlak Syndrome 10
Neutropenia, Macrotia, Splenomegaly, Cerebral atrophy, Low-set ears OMIM:617050
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Growth delay, Eye poking OMIM:204000
Macrosomia Adiposa Congenita
Obesity, Eosinophilia, Large for gestational age OMIM:248100
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A... ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Facial palsy, Myositis OMIM:253600
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Xq28 (MECP2) duplication
Progressive spasticity, Macrotia, Stereotypy, Inability to walk, Gait ataxia DECIPHER:45
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Atypical Rett Syndrome
Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Growth delay, Impaired pain se... ORPHA:3095
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Hearing impairment, Reticulocytopenia, ... OMIM:600901
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp... ORPHA:88616
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia... OMIM:613179
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Growth delay, St... ORPHA:1435
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Pancy... OMIM:603553
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Hearing impairment, Reticulocytopenia, ... OMIM:227650
Roifman Syndrome
Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosple... ORPHA:353298
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Otitis media, Thro... ORPHA:229717
Coffin-Siris Syndrome 6
Conductive hearing impairment, Short stature, Low-set, posteriorly rotated ears, Stereotypy, Tics... OMIM:617808
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Lymphadenopathy, Recurrent otitis media, Autoimmune thrombocytopenia, Rhe... OMIM:607944
Foxg1 Syndrome
Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Myoclonus, Stereot... ORPHA:561854
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Short stature, Impaired pain sensation, Stereotypy, ... OMIM:182290
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Myoclonus, Stereotypy, Inability to walk, Occipital cortical ... ORPHA:411986
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy... OMIM:616100
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Small ... ORPHA:1830
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Failure to thriv... ORPHA:911
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Intrauterine growth retardation, Spastic tetraplegia, Stereotypy OMIM:615282
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Small for gestational age, Anemia... ORPHA:90051
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... OMIM:618917
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy OMIM:612069
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Abnormal size of pituitary gland, Bronchiectasis, Failure to thrive, Dec... ORPHA:293978
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Opisthotonus, Neutropenia, Bone marrow hypocellularity, Cerebral atrophy, Inf... ORPHA:445038
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Recurrent otitis media, Hyperactivity, Brain atrophy, Spasticity OMIM:615286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Stereotypy, Tremor, Hearing impairment, Low-set ears ORPHA:238750
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Hearing im... OMIM:227645
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Acute leukemia, Chronic otit... ORPHA:906
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment ORPHA:457260
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Stereotypy OMIM:616341
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Eosinophilia, Eczema OMIM:243700
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Cerebral atrophy ORPHA:500545
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Sensorineural hearing i... ORPHA:760
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration,... OMIM:610217
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Optic disc pallor, Myoclonic spasms, Cerebellar atrophy, Poor motor coordination, Ste... ORPHA:79264
Immunodeficiency 31C
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia OMIM:614162
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Frequen... ORPHA:206448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start... ORPHA:320406
Mental Retardation, Autosomal Dominant 48
Sensorineural hearing impairment, Low-set ears, Abnormality of the pinna, Stereotypy OMIM:617751
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Macrocephaly/Autism Syndrome
Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Hearing imp... OMIM:619580
Methylmalonic Aciduria, Cbla Type
Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia OMIM:251100
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Protruding ear, Short stature, Optic nerve hypoplasia, Hearing impairment, Repetit... ORPHA:401777
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia, Cerebral atrophy OMIM:617268
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Short stature, Stereotypy ORPHA:391307
Gm2 Gangliosidosis, Ab Variant
Dystonia, Short stature, Chorea, Neurodegeneration, Exaggerated startle response, Postnatal growt... ORPHA:309246
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Optic atrophy, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chore... OMIM:615673
Nijmegen Breakage Syndrome
Sinusitis, B lymphocytopenia, Bronchiectasis, Neurodegeneration, Macrotia, Dysgammaglobulinemia, ... OMIM:251260
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Optic neuropathy, Dyssynergia, Choreoathetosis, D... ORPHA:101
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Thrombocytopenia ORPHA:391673
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Abnormal cranial nerve morphology, Rigidity, Shuffling gait, Intention tremor, Ata... ORPHA:247234
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Choreoathetosis, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia, Spast... OMIM:612716
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Failure to thrive, Hyperechogenic pancreas, Low-set ears, Thrombo... OMIM:617941
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Pseudopapilledema, Abnormal granulocyte morphology, Spleno... ORPHA:1451
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Macrotia, Low-set ears, Thrombocytopenia, C... OMIM:277400
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Impaired pain sensation, Stereotypy OMIM:616579
Tay-Sachs Disease
Clumsiness, Gait disturbance, Dystonia, Optic atrophy, Progressive spasticity, Cerebellar atrophy... ORPHA:845
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Caudate atrophy, Neuronal loss in central nervous system, Myoclonus, Tre... ORPHA:363400
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Cerebellar atrophy, Neutropenia, Thrombocytopenia, Lymph... ORPHA:167
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Macrotia, Short stature OMIM:300558
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia... ORPHA:529808
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing impairment, Hypertonia... ORPHA:529799
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... ORPHA:83471
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:208900
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impair... OMIM:609727
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Abnormality of the pinna, Tremor, Hyperactivity, Cerebellar vermis atrophy, Gait a... OMIM:300354
Icf Syndrome
Decreased circulating antibody level, Anemia, Lymphopenia, Low-set ears, Abnormality of neutrophils ORPHA:2268
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Stomatitis, Failure to thrive, Megaloblastic anemia, Skin rash ORPHA:79284
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia OMIM:602450
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Clumsiness, Paralysis, Paraparesis, Progressive... ORPHA:43
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Esophagitis OMIM:610247
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Aganglionic megacolon, Short stature, Poor hand-eye coordination, Ste... OMIM:300352
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... OMIM:616005
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Growth delay, Stereotypy ORPHA:3306
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating antibody level, Polycystic ovaries, Abnormal testis morp... ORPHA:100
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Growth delay, Scissor gait, Dysmetria, Facial diplegia, Spastic gait, Spastic tetr... OMIM:619121
Cri-Du-Chat Syndrome
Optic atrophy, Growth delay, Abnormality of the pinna, Hearing impairment, Stereotypy, Hyperactiv... OMIM:123450
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Bronchiectasis, Chronic otitis media, Lymphadenopathy, D... ORPHA:1572
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Macrotia, Hyperactivity, Prominent crus of helix, Atte... OMIM:301013
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing, EEG abnormality OMIM:618760
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Failure to thrive... OMIM:615934
Dilated Cardiomyopathy With Ataxia
Dystonia, Optic atrophy, Intrauterine growth retardation, Growth delay, Atrophy/Degeneration affe... ORPHA:66634
Cohen Syndrome
Optic atrophy, Failure to thrive in infancy, Neutropenia, Sensorineural hearing impairment, Aplas... ORPHA:193
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Eosinophilia, Increased circulating antibody level ORPHA:99965
Ck Syndrome
Hyperactivity, Posteriorly rotated ears ORPHA:251383
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating a... OMIM:613011
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... OMIM:615952
Noonan Syndrome 12
Atopic dermatitis, Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymph... OMIM:618624
Shwachman-Diamond Syndrome 1
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... OMIM:260400
Roifman Syndrome
Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinophilia OMIM:616651
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Global brain atrophy, Lower limb spas... ORPHA:139396
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Bronchiectasis, Anemia, Acute myeloid leukemia, Low-set ears, Decreased body weight,... OMIM:601347
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Bone marrow hypocellularity, ... OMIM:227646
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome