Gene Summary

Name:
glutamate receptor, metabotropic 7
Synonyms:
6330570A01Rik,  E130018M02Rik,  Gpr1g,  mGlu7a receptor,  mGluR7

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
increased mean platelet volume Grm7em1(IMPC)H HOM   Early adult 7.23×10-05
hyperactivity Grm7em1(IMPC)H HOM   Early adult 9.53×10-26
increased grip strength Grm7em1(IMPC)H HOM Early adult 1.87×10-05
limb grasping Grm7em1(IMPC)H HOM Early adult 6.37×10-18
decreased anxiety-related response Grm7em1(IMPC)H HOM   Early adult 8.51×10-05
decreased bone mineral content Grm7em1(IMPC)H HOM Early adult 3.49×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Human diseases caused by Grm7 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 Grm7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Seizure, Status epilepticus OMIM:618922

The table below shows human diseases predicted to be associated to Grm7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor OMIM:615127
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Epilepsy, Progressive Myoclonic, 8
Dementia, Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure OMIM:616230
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Myoclonus, Dementia OMIM:208700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Tre... OMIM:617831
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus OMIM:618924
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic... OMIM:245570
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Bilateral tonic-clonic seizure OMIM:618425
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... ORPHA:2382
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, Focal impaire... ORPHA:98820
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Tremor, Status epilept... ORPHA:330050
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia OMIM:606324
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Hyperactivity, Ataxia OMIM:615924
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... ORPHA:98818
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Ataxia OMIM:616737
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... ORPHA:178469
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Tremor, Status epilepticus, Generalized myoclonic seizure, Genera... OMIM:612164
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Tremor, Atonic seizure, Generalized non-motor ... OMIM:617810
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619301
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk OMIM:618718
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Dystonia 26, Myoclonic
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... OMIM:619616
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Osteoporosis... OMIM:607330
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619302
Cln5 Disease
Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ata... ORPHA:228360
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with gene... ORPHA:352582
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology OMIM:300831
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Myoclonic seizure, Foc... ORPHA:363558
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Action tremor, Bilateral tonic-clonic seizure OMIM:300423
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:289266
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tremor ORPHA:529665
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Spinocerebellar Ataxia 48
Tremor, Bilateral tonic-clonic seizure OMIM:618093
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, Focal impaired awareness seizure... OMIM:619428
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... ORPHA:1929
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:254780
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Osteopenia OMIM:616809
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Emotional... OMIM:610217
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:1942
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia OMIM:300354
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, ... ORPHA:168491
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Lafora Disease
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Seizure, Bilateral t... ORPHA:501
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Craniosynostosis, Hyperactivity, Ataxia, Depression, Bipolar affective d... OMIM:601853
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:614487
X-Linked Intellectual Disability, Hedera Type
Action tremor, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia ORPHA:391307
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Dense calvaria, Splenomegaly OMIM:252920
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Dk1-Cdg
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:91131
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Pediatric-Onset Graves Disease
Mood swings, Neutropenia in presence of anti-neutropil antibodies, Craniosynostosis, Splenomegaly... ORPHA:525731
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait ORPHA:35069
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, Broad-base... ORPHA:98794
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:313772
Myopathy With Extrapyramidal Signs
Leukocytosis, Dystonia, Splenomegaly, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Opisthotonus, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Craniosynostosis, Broad-based gait OMIM:609625
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... ORPHA:760
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Splenomegaly OMIM:252900
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Osteoporosis ORPHA:447980
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Abn... ORPHA:2388
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait OMIM:105830
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Tremor, Hyp... ORPHA:72
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Acanthocytosis, Bradykinesia, Depression, Tremor, Hyperactivity, Atax... OMIM:234200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired aw... OMIM:619580
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure, Multifocal se... ORPHA:480864
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Citrullinemia Type Ii
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy ORPHA:247585
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dense calvaria, Splenomegaly OMIM:252930
Bilateral Polymicrogyria
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Generalized-onset seizure, Focal-onset... ORPHA:268940
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
X-Linked Intellectual Disability, Cabezas Type
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Anemia, Hyperactivity, Thrombocytopenia ORPHA:261323
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Bone Marrow Failure Syndrome 3
Reduced bone mineral density, Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia OMIM:617052
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Hyperlysinemia
Opisthotonus, Dysmetria, Craniosynostosis, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Aggressive behavior, Splenomegaly, Reduced bone mineral den... ORPHA:581
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Head titubation, Torticollis, Suicidal ideation, Aggressive behavior,... OMIM:619475
Nijmegen Breakage Syndrome
B lymphocytopenia, Hyperactivity, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Acute monocytic leukemia ORPHA:137605
Histidinemia
Hyperactivity ORPHA:2157
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... ORPHA:805
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Anemia, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect ... ORPHA:642
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Seizure, Status epilepticus OMIM:618922

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 Grm7

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 Grm7.

No publications found that use IMPC mice or data for Grm7.

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MGI Allele Allele Type Produced
Grm7em2(IMPC)H Exon Deletion Mice
Grm7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grm7em1(IMPC)H Exon Deletion Mice

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