Gene: B3galt2 MGI:1349461

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Gene Summary

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased bone mineral density B3galt2tm1.1(KOMP)Vlcg HET   Early adult 7.01×10-05
small kidney B3galt2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal kidney morphology B3galt2tm1.1(KOMP)Vlcg HET Early adult 0.00
increased bone mineral content B3galt2tm1.1(KOMP)Vlcg HET Early adult 8.11×10-05
decreased grip strength B3galt2tm1.1(KOMP)Vlcg HET Early adult 1.91×10-06
increased monocyte cell number B3galt2tm1.1(KOMP)Vlcg HET   Early adult 6.86×10-05
preweaning lethality, incomplete penetrance B3galt2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased lymphocyte cell number B3galt2tm1.1(KOMP)Vlcg HET   Early adult 7.83×10-05

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by B3galt2 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 B3galt2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Action tremor, Weight loss, Bradykinesia, Irritability, Anx... OMIM:606438
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency 40
Lymphopenia OMIM:616433
Increased bone mineral density OMIM:166450
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Increased bone mineral density OMIM:265880
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior ORPHA:401901
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Immunodeficiency 8
Lymphopenia OMIM:615401
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Depression, Head tremor, Action tremor, Progressive cerebella... OMIM:604326
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebel... ORPHA:248111
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... ORPHA:71517
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Obesit... ORPHA:3077
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Isolated Osteopoikilosis
Ectopic kidney, Generalized osteosclerosis ORPHA:166119
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Depression, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Cach... OMIM:618093
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Huntington Disease-Like 1
Aggressive behavior, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Osteope... ORPHA:486
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Failure to thrive, Hyperact... OMIM:609425
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity, Choreoathetosis OMIM:612716
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, D... OMIM:605361
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Axial Osteomalacia
Osteomalacia, Renal cyst, Increased bone mineral density OMIM:109130
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Immunodeficiency 19
Lymphopenia OMIM:615617
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Micropenis OMIM:610680
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, ... ORPHA:309246
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Anxiety, Resting tremor OMIM:606703
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait, Obesity ORPHA:411515
Perry Syndrome
Tremor, Dystonia, Disinhibition, Akinesia, Depression, Apathy, Weight loss, Bradykinesia, Anxiety... OMIM:168605
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Basal Ganglia Calcification, Idiopathic, 5
Depression, Chorea, Apathy, Anxiety, Athetosis OMIM:615483
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Attention deficit hyperactivity disorder, Ataxia, Emotional lability OMIM:614306
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Chorea, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cranial hyperosto... OMIM:259710
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Gaucher Disease Type 1
Osteolysis, Hematuria, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Pathologic... ORPHA:77259
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Chorea, Impulsivity, Impaired pain... ORPHA:500180
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Decreased body weight, Hyperactivity OMIM:618342
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, Abnormal leuko... ORPHA:53
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Sotos Syndrome 3
Hyperactivity OMIM:617169
Graves Disease, Susceptibility To, 1
Irritability, Weight loss, Hyperactivity OMIM:275000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Chorea, Impulsivity, Hyperactivity ORPHA:88616
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Chorea, Self-injurious behavior, Pro... ORPHA:485350
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Methylmalonic acid... ORPHA:859
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia OMIM:614162
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Failure to thrive in infancy, Ataxia, Small for gestati... OMIM:614104
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Failure to thrive, Hyperactivity OMIM:615286
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Oligosacchariduria, Increased bone min... ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinuria, Recurrent fractures, Increased bone mineral density OMIM:239000
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Absence of renal cor... OMIM:259720
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Craniosynostosis, Abnormality of renal excretion, Hyperphosphaturia, Abn... ORPHA:289176
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Bradykinesia, Emotional lability, Impulsivity,... OMIM:610217
Coarse metaphyseal trabecularization, Recurrent fractures, Craniofacial hyperostosis, Increased b... ORPHA:1782
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Distal renal tubular acidosis, Cranial hyperostosis,... OMIM:259730
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Exaggerated startle response, Apathy OMIM:272750
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:369939
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Low urinary cyclic AMP response... ORPHA:94089
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Aggressive behavior, Decreased body weight, Hyperactivity OMIM:300958
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Abdominal obesity, Hyperactivity, Mood swings OMIM:300354
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Osteopoikilosis, Ectopic kidney, Abnormality of the spleen ORPHA:94063
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancytopenia, Anemia of inad... OMIM:617780
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Pain insensitivity, Self-injurious behavior, Hyperactivity, Obesity OMIM:600430
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Opi... OMIM:103050
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Somatic sens... ORPHA:43
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density ORPHA:36913
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
13Q12.3 Microdeletion Syndrome
Self-mutilation, Impaired pain sensation, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... ORPHA:1942
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Gaucher Disease Type 3
Osteolysis, Hematuria, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Increased ... ORPHA:77261
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-base... ORPHA:98794
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Anemia, Sclerosis of ... OMIM:131300
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Increased bone mineral density, Pathol... OMIM:259900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... OMIM:242900
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Smith-Magenis Syndrome
Self-mutilation, Impaired pain sensation, Head-banging, Increased body weight, Hyperactivity OMIM:182290
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
X-Linked Hypophosphatemia
Renal phosphate wasting, Craniosynostosis, Hypocalciuria, Rickets, Tooth abscess, Generalized ost... ORPHA:89936
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity ORPHA:35069
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Inc... ORPHA:90652
Gaucher Disease
Osteolysis, Hematuria, Arthrogryposis multiplex congenita, Proteinuria, Recurrent fractures, Incr... ORPHA:355
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Polycythemia, Sclerosis of foot bone, Sclerosis of skull ... ORPHA:2905
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Ataxia, Hyperactivity OMIM:300912
Erdheim-Chester Disease
Dysuria, Osteolysis, Increased bone mineral density, Hydronephrosis, Anemia, Renal insufficiency,... ORPHA:35687
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Lenz-Majewski Hyperostotic Dwarfism
Facial hyperostosis, Abnormal penis morphology, Joint hyperflexibility, Elbow ankylosis, Osteopet... ORPHA:2658
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Neutropenia, Increased bon... ORPHA:33364
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Angelman Syndrome
Progressive gait ataxia, Limb tremor, Paroxysmal bursts of laughter, Hyperactivity, Broad-based g... OMIM:105830
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Small for gestational age, Anxiety, Hyp... OMIM:123450
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent fractures, Hypero... ORPHA:416
Splenomegaly, Osteopetrosis, Increased bone mineral density ORPHA:35107
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Failure to thrive, Hyperactivity, Attention deficit hyperacti... ORPHA:485405
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Hydronephrosis, Hydroureter OMIM:259775
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, ... ORPHA:72
Hair-pulling, Head titubation, Weight loss, Emotional lability, Head-banging, Progressive inabili... ORPHA:2388
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Increased bone mine... ORPHA:800
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Lymphopenia, Stage 5 chronic kidney disease, Nephrotic syndro... OMIM:617575
Kenny-Caffey Syndrome, Type 2
Anemia, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Depression, Gait disturbance, Laryngeal dystonia, Exaggerate... ORPHA:845
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Pain insensitivity, Hyperactivity, Emotional lability OMIM:256800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Small for gestational age, Failure to thrive, Hyperactivity, Attention deficit h... ORPHA:73272
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased prop... ORPHA:760
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Patchy osteosclerosis OMIM:241410
Citrullinemia Type Ii
Tremor, Decreased body mass index, Lethargy, Aggressive behavior, Irritability, Hyperactivity ORPHA:247585
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Cachexia, Hyperactivity, Broad-based gait, Obesity ORPHA:85293
Pediatric-Onset Graves Disease
Tremor, Irritability, Failure to thrive, Hyperactivity, Mood swings ORPHA:525731
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Pseudohypoparathyroidism Type 1A
Low urinary cyclic AMP response to PTH administration, Increased bone mineral density, Reduced bo... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Low urinary cyclic AMP response to PTH administration, Increased bone miner... ORPHA:79444
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypoplasia of penis ORPHA:2323
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Lymphopenia, Dark urine, Thrombocytopenia, Arthriti... ORPHA:93552
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hy... OMIM:234200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Abnormal proportion of naive CD4... ORPHA:1830
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly, Arthritis OMIM:616100
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hyperactivity OMIM:610883
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Tubulointerstitial fibrosis, Autoimmune thrombocytopenia, Rheumatoid arthritis... OMIM:607944
Cartilage-Hair Hypoplasia
Joint hypermobility, Limited elbow extension, Lymphopenia, Impaired lymphocyte transformation wit... OMIM:250250
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia OMIM:127550
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Mirage Syndrome
Radial club hand, Microphallus, Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypospadias, H... OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Ataxia, Hyperactivity ORPHA:369891
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity OMIM:609727
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Lymphopenia, Anemia ORPHA:935
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Brain-Lung-Thyroid Syndrome
Dystonia, Chorea, Ataxia, Falls, Failure to thrive, Intention tremor, Hyperactivity, Choreoathetosis ORPHA:209905
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Renovascular hypertension, Autoimmune hemolytic anemia, Lymphopenia,... ORPHA:391487
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive OMIM:615574
Immunodeficiency 23
Joint hypermobility, Hemolytic anemia, Lymphopenia, Neutropenia, Membranoproliferative glomerulon... OMIM:615816
Osteopetrosis, Autosomal Recessive 7
Anemia, Osteopetrosis, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand OMIM:602398
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Joint stiffness, Anemia, Leukopenia OMIM:615934
Sandhoff Disease
Exaggerated startle response, Impaired temperature sensation, Ataxia OMIM:268800
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Gait disturbance, Impulsivity, Failure to thrive, Hyperactivity ORPHA:363528
Tremor, Opisthotonus, Failure to thrive, Dysmetria, Hyperactivity, Tip-toe gait ORPHA:2203
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Williams Syndrome
Joint laxity, Increased bone mineral density, Hypercalciuria, Vesicoureteral reflux, Joint stiffn... ORPHA:904
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Pain insensitivity, Difficulty walking, Impair... ORPHA:642
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Glycosuria, Reduced bone mi... ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Thrombocytopenia, Anemia, Splenomegaly, Arthritis OMIM:617591
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Delayed ossification of carpal bones, Lymphopenia, Eosinophilia OMIM:617425
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Lymphopenia, Unilateral renal agenesis, Ectopic kidney, Anemia, Micropenis OMIM:616541
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Self-injurious behavior, Failure to thrive, Hyperactivity, Cho... ORPHA:1934
Secondary Intestinal Lymphangiectasia
Lymphopenia, Arthritis ORPHA:90363
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hydroureter, Sclerosis of skull base, Splenopancreatic fusion, H... OMIM:269150
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Spastic gait, Irritability, Hyperactivity OMIM:207800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Primary Intestinal Lymphangiectasia
Osteoporosis, Iron deficiency anemia, Lymphopenia ORPHA:90362
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Craniosynostosis, Horseshoe kidney, Decreased proportion of CD8-positive T cel... ORPHA:508533
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Inappropriate crying, Failure to thrive in infancy, Hyperactivity ORPHA:261323
Koolen-De Vries Syndrome
Impulsivity, Small for gestational age, Anxiety, Failure to thrive, Hyperactivity, Conspicuously ... OMIM:610443
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia ORPHA:508542
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... OMIM:613179
Legionnaires Disease
Hematuria, Lymphopenia, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:549
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Wiedemann-Steiner Syndrome
Aggressive behavior, Low frustration tolerance, Anxiety, Failure to thrive, Hyperactivity ORPHA:319182
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Unsteady gait, Anxiety, Dysmetria, Hyperactivity, O... ORPHA:96121
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bone mineral density, Anemia, Splen... ORPHA:667
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Avian Influenza
Thrombocytopenia, Lymphopenia, Acute kidney injury, Leukopenia ORPHA:454836
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Nephropathy, Hyp... ORPHA:906
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess, Oste... ORPHA:228119
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Nephropath... OMIM:600903
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Splenomegaly, Anemia, Leukopenia, Hepato... OMIM:615688
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Hypoplasia o... OMIM:208900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive OMIM:617527
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Small for gestational age, Anxiety, Failure to thrive, Hyperactivity ORPHA:464306
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Lymphopenia, Increased mean platelet volume, Hypoplasia of the ... ORPHA:84064
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... ORPHA:805
Distal Monosomy 12Q
Self-mutilation, Impaired pain sensation, Failure to thrive in infancy, Hyperactivity, Obesity ORPHA:96149
Hyperactivity ORPHA:2157
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Horseshoe kidney, Lymphopenia, Ectopic kidney, Splenom... ORPHA:2136
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Mend Syndrome
Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:401973
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Common Variable Immunodeficiency
Lymphopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Primary Sjögren Syndrome
Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, Thrombocytop... ORPHA:289390
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Monosomy 22Q13.3
Hair-pulling, Obesity, Hyperactivity, Impaired pain sensation ORPHA:48652
Whim Syndrome
Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213


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

There is no histopathology data for B3galt2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to B3galt2.

No publications found that use IMPC mice or data for B3galt2.

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MGI Allele Allele Type Produced
B3galt2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
B3galt2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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