Gene Summary

Name:
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Synonyms:
NR2B,  GluN2B,  GluRepsilon2,  NMDAR2B,  Nmdar2b

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
preweaning lethality, incomplete penetrance Grin2btm1e.1(KOMP)Wtsi HOM   Early adult 0.00
decreased locomotor activity Grin2btm1e.1(KOMP)Wtsi HET Early adult 1.06×10-07
increased startle reflex Grin2btm1e.1(KOMP)Wtsi HET Early adult 8.12×10-12
increased mean platelet volume Grin2btm1e.1(KOMP)Wtsi HET Early adult 7.21×10-05
enlarged heart Grin2btm1e.1(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Adult LacZ

LacZ Images Section

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

2 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

Human diseases caused by Grin2b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Grin2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 27
Chorea OMIM:616139
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea OMIM:613970
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Grin2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Excessive shyness OMIM:618221
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Ethanolaminosis
Cardiomegaly OMIM:227150
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:617820
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity ORPHA:137831
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Ataxia, Abnormal cardiac sep... OMIM:616737
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Foxg1 Syndrome
Difficulty walking, Inability to walk, Stereotypical hand wringing, Reduced social reciprocity, M... ORPHA:561854
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Recurrent hand flapping, Gait disturbance, Ataxia, Reduced social rec... ORPHA:544254
Atypical Rett Syndrome
Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Stereotypical hand wringing... ORPHA:3095
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia, Left ventricular hypertrophy OMIM:611209
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Syndromic Diarrhea
Hepatomegaly, Ventricular septal defect, Hypoplasia of the thymus, Increased mean platelet volume... ORPHA:84064
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Pulmonic stenosis, Increased mean platelet volume, Tetra... OMIM:222470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Lethargy OMIM:600649
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:858
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Childhood Disintegrative Disorder
Reduced social reciprocity, Motor stereotypy ORPHA:168782
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Gait ataxia, Ataxia, Dysphag... OMIM:615157
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Lethargy OMIM:619064
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia, Macrothrombocytopenia, Neutropenia OMIM:603585
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Ataxia, Abnormal social behavior, Disinhibition ORPHA:1020
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Excessive shyness, Reduced soci... ORPHA:449291
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Abnormal heart morphology, Thrombocytopenia, Total anomalous pulm... ORPHA:487796
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocity, Attention d... OMIM:617854
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... OMIM:256550
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding, Abnormal social behavior ORPHA:64280
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Difficulty walking, Ventricular hypertrophy, Cardiomyopathy, Waddling ga... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:269920
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Truncal ataxia, Cardiomyopathy, Gait disturbance, Gait ataxia, Ataxia, Unsteady gait... OMIM:619259
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Dystonia, Hypertrophic cardiomyopathy OMIM:614702
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Reduced social reciprocity, Unsteady gait, Attention deficit hyperactivity... ORPHA:1942
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lethargy, Endocardial fi... OMIM:212140
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dystonia, Loss of ambulation, Cardiomegaly, Choreoathetosis ORPHA:391428
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Restlessness, Delirium ORPHA:100924
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Ataxia, Lethargy ORPHA:42
Pseudo-Torch Syndrome 3
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... OMIM:603903
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Reduced social reciprocity, Impulsivity ORPHA:8
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly, Ataxia, Cardiomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Truncal ataxia, Tremor, Cardiomyopathy, Intention tremor, Ataxia, Cardiomegaly OMIM:105210
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Stereotypical body rocking, ... OMIM:300912
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Wagro Syndrome
Agitation, Compulsive behaviors, Polyphagia, Reduced social reciprocity, Aggressive behavior OMIM:612469
Young-Onset Parkinson Disease
Agitation, Gait imbalance, Impulsivity, Restless legs, Reduced social reciprocity ORPHA:2828
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Ataxia OMIM:266500
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Pontocerebellar Hypoplasia, Type 8
Reduced social reciprocity, Dysphagia, Gait ataxia OMIM:614961
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Gait disturbance, Reduced social reciprocity, Motor stereotypy, Attention defic... OMIM:300352
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Lethargy, Hypertrophic cardiomyopathy OMIM:201475
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Ataxia, Reduced social reciprocity OMIM:256600
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618798
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response, Mitral valve prolapse ORPHA:309155
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyp... OMIM:615656
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Akinesia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Opisthotonus,... OMIM:608013
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Lethargy OMIM:255120
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Ataxia, Reduced social reciprocity, ... OMIM:156200
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Compulsive behaviors, Reduced social reciprocity, Aggressive behavior OMIM:309520
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Broad-b... ORPHA:93932
Mogs-Cdg
Hepatomegaly, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardi... ORPHA:79330
1P21.3 Microdeletion Syndrome
Excessive shyness, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive... ORPHA:293948
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Choreoathetosis, Reduced social reciprocity, Motor ster... ORPHA:261197
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Tremor, Exaggerated startle response OMIM:620327
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Leukodystrophy, Hypomyelinating, 13
Ataxia, Exaggerated startle response OMIM:616881
Rett Syndrome, Congenital Variant
Tongue thrusting, Athetosis, Reduced social reciprocity, Motor stereotypy, Bruxism OMIM:613454
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Lead Poisoning
Anorexia, Miscarriage, Reduced social reciprocity, Attention deficit hyperactivity disorder ORPHA:330015
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Lethargy ORPHA:465508
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Nonprogressive cerebellar ataxia, Ataxia, Unsteady gait, Dysmetria, Agg... ORPHA:314647
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect, Exaggerated startle response, Dystonia, Thrombocytopenia, ... OMIM:620423
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive gait ataxia ORPHA:309263
Alg11-Cdg
Ataxia, Reduced social reciprocity ORPHA:280071
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Unsteady gait, Reduced social reciprocity, Motor stereotypy, ... OMIM:606232
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, Secundum ... OMIM:620066
Congenital Disorder Of Deglycosylation 2
Reduced social reciprocity, Dysphagia OMIM:619775
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Tip-toe gait, Inability to walk, Right ventricular hypertrophy ORPHA:268
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Delayed early-childhood social milestone development, Spastic ataxia, Reduced ... ORPHA:300570
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Tay-Sachs Disease
Inability to walk, Tremor, Gait disturbance, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Abetalipoproteinemia
Steppage gait, Hepatomegaly, Anemia, Broad-based gait, Reticulocytosis, Gait ataxia, Ataxia, Card... ORPHA:14
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Abnormal social behavior, Progressive gait ataxia ORPHA:309271
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Lethargy OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Exaggerated startle response, Pulmonic stenosis, Myocardial ... OMIM:253800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy OMIM:608836
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inability to walk, Gait disturbance, Ataxia, Cardiomegaly OMIM:618143
Fucosidosis
Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Dystonia, Splenomegaly, Cardiomegaly OMIM:230000
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Impulsivity, Repetitive compulsive behavior, Attention d... ORPHA:805
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Unsteady gait, Motor stereo... ORPHA:96121
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Reduced so... ORPHA:404448
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Difficulty walking, Splenomegaly OMIM:232300
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Gait disturbance, Abnormal mitral valve morpholog... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Niemann-Pick Disease Type C
Abnormal social behavior, Compulsive behaviors, Gait disturbance, Ataxia, Dysphagia, Disinhibitio... ORPHA:646
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Tremor, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:300967
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect OMIM:614921
Aicardi-Goutières Syndrome
Difficulty walking, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Tremor, Hyp... ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Agitation, Restrictive behavior, Broad-based gait, Hyperactivity, Falls, Compulsive... OMIM:619475
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Inability to walk, Splenic cyst, Patent foramen ovale, Dystonia, Cardiomegaly OMIM:620371
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Iron deficien... OMIM:300855
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenom... OMIM:620376
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Dysphagia, Motor ste... OMIM:615873
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363958
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Lethargy ORPHA:137675
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Difficulty walking, Inability to walk, Hypertrophic cardiomyopathy, Left ventricula... ORPHA:365
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Compulsive behaviors, Polyphagia, Reduced social reciprocity, Self-injurious behavior... ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Inability to walk, Broad-based gait, Patent foramen ovale, Exaggerated startle response, ... ORPHA:438213
Trichothiodystrophy
Reduced social reciprocity, Gait ataxia ORPHA:33364
Bohring-Opitz Syndrome
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology ORPHA:97297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353281
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Anemia, Lymphocytosis, Patent foramen ovale, Thrombocytope... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Reduced social reciprocity, Gait ataxia ORPHA:457359
Williams Syndrome
Gait imbalance, Abnormal social behavior, Death in early adulthood, Compulsive behaviors, Gait di... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Polycythemia, Splenome... ORPHA:116
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Oppositional defiant disorder, Reduced social reciprocity, Dysphagia, Self-mutilation... OMIM:607872
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Singleton-Merten Syndrome 1
Waddling gait, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Car... OMIM:182250
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect, Exaggerated startle response OMIM:619522
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608
Developmental And Epileptic Encephalopathy 27
Chorea OMIM:616139
Mowat-Wilson Syndrome
Inability to walk, Broad-based gait, Ataxia, Reduced social reciprocity, Dysphagia, Motor stereot... ORPHA:2152
17Q11 Microdeletion Syndrome
Reduced social reciprocity ORPHA:97685
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea OMIM:613970
Infantile Spasms Syndrome
ORPHA:3451

Histopathology

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

There is no histopathology data for Grin2b

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 Grin2b.

No publications found that use IMPC mice or data for Grin2b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Grin2btm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells
Grin2btm1e.1(KOMP)Wtsi Promoter excision from Targeted, non-conditional allele Mice, Tissue
Grin2btm37380(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grin2btm354689(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grin2btm37380(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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