Gene Summary

Name:
C1q-like 3
Synonyms:
1110065A22Rik,  K100

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased neutrophil cell number C1ql3em1(IMPC)H HOM Early adult 5.59×10-05
decreased leukocyte cell number C1ql3em1(IMPC)H HOM Early adult 1.63×10-07
increased blood urea nitrogen level C1ql3em1(IMPC)H HOM Early adult 5.81×10-06
decreased lymphocyte cell number C1ql3em1(IMPC)H HOM Early adult 1.26×10-06
decreased eosinophil cell number C1ql3em1(IMPC)H HOM Early adult 5.87×10-07
decreased monocyte cell number C1ql3em1(IMPC)H HOM Early adult 2.64×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 C1ql3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to C1ql3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency 40
Lymphopenia OMIM:616433
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity OMIM:300830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Abnormal neuron morphology, Shuffling gait, Bradykinesia, Falls... ORPHA:412066
Immunodeficiency 19
Lymphopenia OMIM:615617
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety OMIM:617665
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Progressive cerebellar ataxia,... OMIM:605361
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Huntington Disease-Like 1
Dementia, Dysmetria, Chorea, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... OMIM:604250
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression OMIM:159900
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Juvenile Huntington Disease
Dystonia, Dementia, Chorea, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, I... ORPHA:248111
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... OMIM:604326
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia OMIM:617056
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Immunodeficiency 55
Neutropenia OMIM:617827
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Whim Syndrome 1
Neutropenia OMIM:193670
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia ORPHA:289916
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Chorea, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, De... OMIM:618093
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia OMIM:251900
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Retinal Venous Beading
Neutropenia OMIM:180080
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Dystonia 26, Myoclonic
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251110
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:572
Azotemia, Familial
Azotemia OMIM:109160
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia OMIM:614857
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... ORPHA:292
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251100
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Lichtenstein Syndrome
Neutropenia OMIM:246550
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,... OMIM:277380
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Propionic Acidemia
Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia OMIM:606054
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impai... ORPHA:309246
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulating C-reactive ... OMIM:619644
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia OMIM:612716
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Cognitive impairment, Aggressive behavior, Inappropriate sexual behav... ORPHA:43
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... OMIM:613179
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Hyperactivity, Impulsivity, Depression ORPHA:88616
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inability to walk,... ORPHA:500180
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Felty Syndrome
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Irritability, Emotional lab... ORPHA:1929
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability,... OMIM:610217
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Megaloblastic anemi... ORPHA:79284
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmun... ORPHA:760
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity ORPHA:101039
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Hyperactivity, At... ORPHA:163681
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Chorea, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivit... ORPHA:485350
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Lymphopenia, Thro... ORPHA:1830
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... OMIM:613011
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:617303
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... ORPHA:35069
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low fr... ORPHA:168491
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Psoriasis 14, Pustular
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... ORPHA:3226
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me... OMIM:277400
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Glycogen Storage Disease Ib
Neutropenia, Hyperlipidemia, Hyperuricemia OMIM:232220
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Depression, Bipolar affecti... OMIM:601853
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Hyperalaninemia OMIM:615471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:90051
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop... OMIM:617099
Cryptogenic Organizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres... OMIM:615952
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Cockayne Syndrome Type 1
Anemia, Increased blood urea nitrogen ORPHA:90321
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Neutrophilia, Elevated circ... ORPHA:829
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Whim Syndrome
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Megaloblastic anemia... ORPHA:79282
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Chorea, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... ORPHA:276
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukopenia ORPHA:36238
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia OMIM:601347
Ataxia-Telangiectasia
Lymphopenia ORPHA:100
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227646
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Choreoathetosis, Bradykinesia, Depression, Hyperactivity, A... OMIM:234200
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior, Pain insensitivity OMIM:600430
Rothmund-Thomson Syndrome
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia ORPHA:2909
Leigh Syndrome
Anemia, Neutropenia, Hyperalaninemia ORPHA:506
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Pearson Syndrome
Neutropenia, Hypokalemia, Anemia, Hypophosphatemia, Splenomegaly, Hypomagnesemia, Hyperalaninemia... ORPHA:699
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Elevated circulat... ORPHA:50918
Rothmund-Thomson Syndrome Type 1
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia ORPHA:221008
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... OMIM:615934
Cohen Syndrome
Neutropenia ORPHA:193
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Rothmund-Thomson Syndrome Type 2
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia ORPHA:221016
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:612852
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia OMIM:617591
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Trichothiodystrophy
Anemia, Neutropenia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia, Hyperuricemia... ORPHA:79259
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Impaired pain sensation OMIM:182290
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Hypocalcemia ORPHA:175
Mirage Syndrome
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... ORPHA:3243
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hypersplenism, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Elevated alpha-fetoprotein, Decreased proportion of CD4-posit... OMIM:208900
Myopathy With Extrapyramidal Signs
Dystonia, Choreoathetosis, Chorea, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation, Impaired pain sensation ORPHA:412035
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy ORPHA:247585
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Fragile X Syndrome
Hyperactivity OMIM:300624
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia OMIM:127550
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Pain insensitivity, Self-mutilation OMIM:256800
Histidinemia
Hyperactivity ORPHA:2157
Familial Mediterranean Fever
Leukocytosis, Elevated circulating amyloid A, Splenomegaly, Neutrophilia, Elevated circulating C-... OMIM:249100
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Hyperactivi... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Popov-Chang syndrome
Lymphopenia OMIM:618428
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Impaired vibratory sensation OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Hyperactivity, Low frustration tolerance, Pain insensitivity OMIM:300534
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... OMIM:615688
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Hemolytic anemia, Lymphopenia, Splenomegaly ORPHA:1572
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Anemia, Lymphopenia OMIM:616541
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
Legius Syndrome
Attention deficit hyperactivity disorder, Dystonia, Cognitive impairment, Hyperactivity ORPHA:137605
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein ... ORPHA:319213
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Marburg Hemorrhagic Fever
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... ORPHA:99826
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Hereditary Sensory And Autonomic Neuropathy Type 4
Trophic limb changes, Impaired temperature sensation, Self-mutilation, Hyperesthesia, Painless fr... ORPHA:642
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Lymphopenia, Decreased propor... OMIM:619573
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... ORPHA:581
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900