Gene Summary

Name:
leucine rich repeat and fibronectin type III, extracellular 2
Synonyms:
Lrrc62

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 vertical activity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 7.49×10-09
decreased thigmotaxis Elfn2tm1.1(KOMP)Vlcg HOM Early adult 1.48×10-21
hyperactivity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 3.58×10-15
abnormal kidney morphology Elfn2tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal behavior Elfn2tm1.1(KOMP)Vlcg HOM Early adult 2.16×10-21

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
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Cecum  Section images heterozygote 66.67% (2 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Colon  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Eye  Wholemount images  Section images heterozygote 100% (3 of 3)
Ileum  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Trigeminal V nerve  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
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 3)
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
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 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

11 Images

Human diseases caused by Elfn2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Elfn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity, Seizure OMIM:617796
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Depression, Attention deficit hyperactivity disorder ORPHA:280397
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Seizure, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Aggressive behavior, Gait ataxia, Seizure, Status epilepticus, Attention deficit hyperactivity di... OMIM:618687
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spastic tetraplegia, Hyperactivity, Irritability, Babinski sign, Seizure OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Seizure, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Abnormal social behavior, Anxi... ORPHA:101039
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Stereotypical hand wringing, Self-injurious behavior, Inappropriate... ORPHA:397933
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Seizure, Infantile spasms OMIM:619031
Landau-Kleffner Syndrome
Aggressive behavior, Nocturnal seizures, Depression, Frequent falls, Hyperactivity, Speech apraxi... ORPHA:98818
Gilles De La Tourette Syndrome
Phonic tics, Aggressive behavior, Self-mutilation, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, Abnormal social behavior ORPHA:436151
Behavioral Variant Of Frontotemporal Dementia
Disinhibition, Motor stereotypy, Fasciculations, Inappropriate behavior, Emotional blunting, Aggr... ORPHA:275864
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Bilateral tonic-clonic seizure, Depression, Myoclonus, Attention defi... OMIM:619191
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Aggressive behavior, Recurrent hand flapping, Stereotypical bod... OMIM:309548
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-ons... ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Hemiparesis, Impulsivity, Seizure, Hype... OMIM:604317
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsine... ORPHA:100973
Autosomal Recessive Non-Syndromic Intellectual Disability
Generalized-onset seizure, Motor stereotypy, Hyperactivity, Focal-onset seizure, Spasticity, Chor... ORPHA:88616
Myoclonus-Dystonia Syndrome
Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticollis, Depre... ORPHA:36899
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity, Aggressive behavior, Attention deficit hyp... OMIM:619639
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Anxiety, Inappropriate behavior, Ataxia, Upper motor neuron dysfunction, Rigidity, ... ORPHA:401901
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Stereotypical hand wringing, Self-injurious behavior, Focal-onset ... OMIM:618760
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact, Spasticity, Seizure, Tremor OMIM:300983
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Myoclonus, Tremor OMIM:159900
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Impulsivity, Seizur... OMIM:301008
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Poor hand-eye coordination, A... ORPHA:86909
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Impulsivity, Seizure, Myoclonus OMIM:605899
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Self-injurious behavior, Hyperactivity, Generalized myoclonic seizure, Athetosis,... ORPHA:382
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus OMIM:239500
Atypical Rett Syndrome
Impaired social interactions, Hand apraxia, Pill-rolling tremor, Apraxia, Stereotypical hand wrin... ORPHA:3095
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Stereotypical hand wringing, Seizure, Tremor OMIM:619561
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Foxg1 Syndrome
Impaired social interactions, Choreoathetosis, Paroxysmal bursts of laughter, Motor stereotypy, H... ORPHA:561854
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Action tremor, Anxiety, Poor coordination, Ataxia, Focal motor seizure, Genera... OMIM:617665
Childhood Absence Epilepsy
Abnormal social behavior, Myoclonic absence seizure, Anxiety, Typical absence seizure, Febrile se... ORPHA:64280
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency, Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior, Spasticity, Oculomotor apraxia, Seiz... OMIM:612716
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Generalized myoclonic seizure, Hyperactivity, Ataxia, Aggressiv... OMIM:271980
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity, Seizure ORPHA:500545
Childhood Disintegrative Disorder
Impaired social interactions, Motor stereotypy, Anxiety, Abnormal emotion/affect behavior, Seizure ORPHA:168782
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Spasticity, Focal impaired awareness seizure, Bilateral t... ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, ... ORPHA:3077
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Stereotypical hand wringing, Self-injurious behavior, Focal-onset seizure, Febrile... OMIM:618917
Morm Syndrome
Micropenis, Hyperactivity, Aggressive behavior ORPHA:75858
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Ri... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Seizure, Myoclonus, Tremor OMIM:615924
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Motor stereotypy, Paroxysmal dyskine... ORPHA:208447
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Motor stereotypy, Anxiety, Involuntary movements, Focal hyperkinetic seizure, ... ORPHA:98784
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Anxiety, Focal-onset seizure, Generalized-onset seizure OMIM:602066
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Seizure, Tremor OMIM:619470
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Motor stereotyp... ORPHA:178469
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Panic attack, Ataxia, Cogw... OMIM:619725
Rasmussen Subacute Encephalitis
Attention deficit hyperactivity disorder, Focal sensory seizure with somatosensory features, Repe... ORPHA:1929
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Anxiety, Hyperactivity, Lower limb spasticity, Ag... ORPHA:485350
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Generalized myoclonic seizure, Rigidity, Seizure, Tremor OMIM:618090
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity, Seizure OMIM:616977
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity, ... ORPHA:449291
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Febrile seizure (within the age rang... OMIM:615516
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Anxiety, Generalized myoclonic seizure... ORPHA:36387
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Focal-onset seizure, Inappropriate laughter, Poor eye contact, Gener... ORPHA:505652
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Anxiety, Bilateral tonic-clonic seizur... ORPHA:1945
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Increased level of hippuric acid in urine, Irritabil... OMIM:261600
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Anxiety, Ataxia, Gait ataxia, Irritability, Chorea, Bilateral tonic-clon... OMIM:618093
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Tonic seizure, Opisthotonus, Choreoathetosis, Paroxysmal bursts of laughter, Mood... OMIM:619580
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Low frustration tolerance, Atonic seizure, Motor stereotypy, Anxiety, Hyperac... ORPHA:168491
Cln5 Disease
Dysmetria, Generalized-onset seizure, Anxiety, Hyperactivity, Poor gross motor coordination, Foca... ORPHA:228360
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity, Seizure, Inappropriate laughter OMIM:618859
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Aggr... OMIM:610042
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Seizure ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Seizure OMIM:300979
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Self-mutilation, Bilateral tonic-clonic seizure, Depression, Upper lim... ORPHA:457240
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Seizure, Aggressive behavior OMIM:618362
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal pyramidal sign, Lack of peer relationships, Atonic seizure... ORPHA:1942
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Fragile X Syndrome
Self-biting, Hyperactivity, Poor eye contact, Recurrent hand flapping, Seizure OMIM:300624
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Spasticity, Depression, Sei... OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor coordination, Recurrent hand flapping, Gait ataxia, Irritability, Impulsivity OMIM:619717
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Generalized myoclonic seizure, Inappropriate crying, Tongue thrusting,... ORPHA:77299
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Shyness, Spasticity, Babins... ORPHA:280763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Spasticity, Seizure, Tremor OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Anxiety, Emotional lability, Poor motor coordin... ORPHA:79264
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Hyperactivity, Limb hypertonia, Aggressive behavior, Gait ataxia, Spasti... ORPHA:500180
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Stereotypical hand wringing, Hyperactivity, Bilateral tonic-clonic sei... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Bilateral tonic-clonic seizure, Clumsiness, Generali... OMIM:300558
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Hyperactivity, Cerebral palsy, Spasticity, Atte... ORPHA:352490
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Aggressive behavior, Seizure, Attention defic... ORPHA:313892
Aminoacylase 1 Deficiency
Hyperactivity, Seizure OMIM:609924
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Stereotypical hand wringing, Hyperactivity, Ataxia, Inappropriate... OMIM:614104
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Motor stereotypy, Poor eye contact, Generalized tonic seizure, Focal impaired awa... ORPHA:411986
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, ... ORPHA:228402
Lamb-Shaffer Syndrome
Motor stereotypy, Abnormal social behavior, Hyperactivity, Ataxia, Upper motor neuron dysfunction... ORPHA:530983
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Hypertonia, Action tremor, Parkinsonism, Anxiety, Ataxia, Aggressiv... OMIM:619738
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder OMIM:301013
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Generalized-onset seizure, Myoclonic absence seizure, Poor coordina... ORPHA:544254
Christianson Syndrome
Generalized-onset seizure, Motor stereotypy, Conspicuously happy disposition, Inappropriate laugh... ORPHA:85278
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age range of 3 mont... ORPHA:289266
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Stereotypical body rocking, Tonic seizure, Atonic seiz... OMIM:300912
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Seizure ORPHA:411515
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Seizure, Hypertonia OMIM:274270
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Seizure, Aggressive behavior ORPHA:457260
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Anxiety, Motor stereotypy ORPHA:397612
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Hyperactivity, Aggressive behavior, Inappropriate laughter, Gait at... OMIM:103050
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Seizure, Recurrent hand flapping OMIM:617268
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Motor stereotypy, Hyperactivity, Aggressive behavior, Seizure ORPHA:3306
Gand Syndrome
Tics, Hyperactivity, Inappropriate laughter OMIM:615074
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity, Seizure, Aggressive behavior OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Clark-Baraitser Syndrome
Hyperactivity, Seizure, Aggressive behavior OMIM:617752
Angelman Syndrome
Atypical absence seizure, Happy demeanor, Atonic seizure, Self-injurious behavior, Anxiety, Gener... ORPHA:72
48,Xxyy Syndrome
Motor stereotypy, Anxiety, Ataxia, Attention deficit hyperactivity disorder, Depression, Seizure,... ORPHA:10
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing, Anxiety, Self-mutilation, Seizure ORPHA:319671
Ck Syndrome
Irritability, Seizure, Aggressive behavior, Hyperactivity ORPHA:251383
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Anxiety, Inappropriate behavior, Chorea, Exaggerated startle response, P... ORPHA:309246
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity, Polyuria, Renal magnesium wasting, Renal potassium wasting OMIM:618314
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Anxiety, Ataxia, Emotional lability, Paraplegia, Seizure ORPHA:927
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity, Aggressive behavior OMIM:617773
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Hyperactivity, Lower limb spasticity, Irritability, Clonus, B... ORPHA:447997
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Tonic seizure, Anxiety, Lower limb spasticity, Ataxia, Poor eye c... OMIM:300260
Dystonia 26, Myoclonic
Anxiety, Blepharospasm, Torticollis, Depression, Myoclonus OMIM:616398
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Anxiety, Spasticity, Oromotor apraxia, Seizure, Attention deficit... ORPHA:391372
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Intention tremor, Hyperactivity, Bradykinesia, Emotional lability, Gait ataxia, Spasti... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure OMIM:300434
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Status epilepticus, Ataxia, Gait ataxia, Po... ORPHA:363400
Developmental And Epileptic Encephalopathy 87
Hypertonia, Seizure, Infantile spasms, Recurrent hand flapping OMIM:618916
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Proximal renal tubular acidosis, Aggressive behavior OMIM:615824
Ck Syndrome
Irritability, Seizure, Aggressive behavior, Hyperactivity OMIM:300831
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure OMIM:617169
Distal Xq28 Microduplication Syndrome
Self-biting, Anxiety, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Depressi... ORPHA:293939
Marbach-Schaaf Neurodevelopmental Syndrome
Happy demeanor, Aggressive behavior, Recurrent hand flapping, Speech apraxia, Attention deficit h... OMIM:619680
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior, Motor stereotypy ORPHA:391307
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Seizure, Motor stereotypy ORPHA:85277
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Recurrent hand flapping, Inappropriate laughter, Tongue th... ORPHA:98794
4Q21 Microdeletion Syndrome
Self-injurious behavior, Seizure, Tremor, Motor stereotypy ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Anxiety, Conspicuously happy disposition, Ataxia, Aggressive behavior, R... OMIM:300986
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Seizure OMIM:300143
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Anxiety, Seizure, Motor stereotypy ORPHA:1727
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Happy demeanor, Broad-based gait, Unsteady gait OMIM:617865
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia, Self-mutilation, Chorea, Seizure, Hypertonia ORPHA:52503
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Blepharospasm, Athetosis, Limb hypertonia, Emotional lability, Tongue thrusting,... OMIM:608643
Rett Syndrome, Congenital Variant
Impaired social interactions, Apraxia, Inappropriate crying, Athetosis, Poor eye contact, Tongue ... OMIM:613454
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Disinhibition, Hyperactivity, Aggressive behavior, Paraparesis, Inappr... ORPHA:43
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Self-injurious behavior, Generalized myoclonic seizure, Limb hypertonia, Poor e... ORPHA:457351
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Seizure, Aggressive behavior OMIM:300958
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, Recurrent hand flapping, Tongue thrusting, Inappropriate laughter, Seizure ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia, Seizure, Tremor OMIM:300354
Nmda Receptor Encephalitis
Opisthotonus, Choreoathetosis, Generalized-onset seizure, Motor stereotypy, No social interaction... ORPHA:217253
Progressive Supranuclear Palsy
Blepharospasm, Abnormal synaptic transmission, Bradykinesia, Rigidity, Depression, Impulsivity, T... ORPHA:683
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Speech ap... ORPHA:261197
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Depression, Seizure, ... OMIM:601853
5Q14.3 Microdeletion Syndrome
Seizure, Motor stereotypy ORPHA:228384
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Tetraplegia, Hyperactivity, Aggressive behavior ORPHA:369939
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Impaired social interactions, Delayed social development, Spastic tetraplegia, Motor stereotypy, ... ORPHA:300570
Infantile Neuroaxonal Dystrophy
Abnormal pyramidal sign, Spastic tetraparesis, Hyperactivity, Ataxia, Emotional lability, Spastic... ORPHA:35069
Myopathy With Extrapyramidal Signs
Frequent falls, Choreoathetosis, Hyperactivity, Ataxia, Clonus, Chorea, Clumsiness, Abnormality o... OMIM:615673
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Poor coordination, Aggressive behavior, Ataxia, Spasticity, Seizure OMIM:618430
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Speech apraxia, Motor stereotypy ORPHA:529965
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Aggressive behavior, Gait ataxia, Self-mutilation, Attention deficit hyperactiv... ORPHA:476126
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure OMIM:613192
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Disinhibition, Apraxia, Apathy, Hypersexuality OMIM:607485
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Seizure, Aggressive behavior OMIM:600430
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Lower limb spasticity, Inappropriate laughter, Tics, Se... ORPHA:363686
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Tongue thrusting, Bilateral tonic-clonic seizure, Bilateral tonic-cloni... ORPHA:98795
3P25.3 Microdeletion Syndrome
Motor stereotypy, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Generali... ORPHA:435638
Choreoacanthocytosis
Aggressive behavior, Phonic tics, Apathy, Hair-pulling, Depression, Hyperkinetic movements, Socia... ORPHA:2388
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Tonic seizure, Seizure, Infantile spasms OMIM:619239
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Anxiety, Seizure, Attention deficit hyperactivity diso... ORPHA:819
47,Xyy Syndrome
Impaired social interactions, Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivit... ORPHA:8
Histidinemia
Hyperactivity, Histidinuria ORPHA:2157
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Low frustration tolerance, Hyperactivity, Aggressive behavior, Emot... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Low frustration tolerance, Hyperactivity, Gait ataxia, Self-mutilation, Spasticity, Seizure OMIM:300486
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity, Seizure, Attention deficit hyperactivity disorder ORPHA:401777
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Repetitive compulsive behavior, Hemiballismus, Choreoathetosis, Motor stereotypy, At... ORPHA:522077
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior, Self-injurious behavior, Anxiety, Hyper... ORPHA:805
Argininemia
Frequent falls, Spastic gait, Spastic paraparesis, Hyperactivity, Irritability, Progressive spast... OMIM:207800
Cri-Du-Chat Syndrome
Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive behavior, Self-mutilation, Ov... OMIM:123450
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Atonic seizure, Choreoathetosis, Generalized clonic seizure, Self-injurious beha... ORPHA:1934
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Seizure, Aggressive behavior OMIM:252920
Mend Syndrome
Hyperactivity, Seizure, Hypertonia OMIM:300960
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Hyperactivity, Fatigable weakness of skeletal muscles, Fatiguable weakness... ORPHA:166108
White-Sutton Syndrome
Incoordination, Motor stereotypy, Self-injurious behavior, Hyperactivity, Aggressive behavior, Fe... ORPHA:468678
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Nocturia, Urinary hesitancy, Urinary urgency, Urinary incontinence OMIM:609727
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Limb tremor, Progressive gait ataxia, Clumsiness, S... OMIM:105830
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Febrile seizure (within the age range of 3 m... ORPHA:496641
Rett Syndrome
Motor stereotypy, Stereotypical hand wringing, Bradykinesia, Limb apraxia, Seizure ORPHA:778
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Stereotypical hand wringing, Lower limb spasticity, Focal-onset seizure, F... OMIM:619229
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:488618
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low frustration tolerance, Motor stereotypy, Ataxia, Aggressive behavior, Seizure ORPHA:457279
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Motor stereotypy ORPHA:500159
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Apraxia, Hyperactivity, Hoffmann sign, Lower limb spasticity, At... ORPHA:139396
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Inappropriate crying, Tongue thrusting, Stereotypical bod... ORPHA:261323
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Progressive spastic paraplegia, Low frustration tolerance, Hyperactivity, Aggressive behavior, Lo... OMIM:300534
Wiedemann-Steiner Syndrome
Low frustration tolerance, Motor stereotypy, Anxiety, Hyperactivity, Aggressive behavior, Seizure ORPHA:319182
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Motor stereotypy, Abnormal social behavior, Anxiety... ORPHA:177907
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Choreoathetosis, Blepharospasm, Hyperactivity, Bradykinesi... OMIM:234200
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Motor stereotypy ORPHA:261144
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Skin-picking, Attention deficit hyperactivity disorder ORPHA:485405
7Q11.23 Microduplication Syndrome
Impaired social interactions, Dysmetria, Motor stereotypy, Self-injurious behavior, Anxiety, Hype... ORPHA:96121
White-Sutton Syndrome
Hypoglycemic seizures, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irri... OMIM:616364
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy ORPHA:1001
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Aggressive behavior, Febrile seizure (within the age range of 3 months to 6 yea... OMIM:619475
Glass Syndrome
Happy demeanor, Seizure, Aggressive behavior, Hyperactivity OMIM:612313
Phelan-Mcdermid Syndrome
Impaired social interactions, Aggressive behavior, Poor eye contact, Tongue thrusting, Seizure OMIM:606232
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Aggressive behavior, Self-mutilation, Seizure ORPHA:261494
Megalocornea-Intellectual Disability Syndrome
Seizure, Ataxia, Motor stereotypy ORPHA:2479
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Seizure, Tremor ORPHA:247585
Pyruvate Carboxylase Deficiency
Abnormal pyramidal sign, Ataxia, Infantile spasms, Recurrent hand flapping, Apathy, Poor eye cont... ORPHA:3008
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis, Seizure, Febrile seizure (within the age range... OMIM:619179
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Bilateral renal hypoplasia, Aggressive behavior OMIM:619695
Purine Nucleoside Phosphorylase Deficiency
Spastic paraparesis, Hyperactivity, Ataxia, Cerebral palsy, Spasticity, Abnormal central motor fu... ORPHA:760
Bainbridge-Ropers Syndrome
Hypertonia, Seizure, Recurrent hand flapping ORPHA:352577
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Action tremor, Lower limb spasticity, Ataxia, Seizure ORPHA:66634
Hyperlysinemia
Spastic tetraparesis, Dysmetria, Opisthotonus, Spastic diplegia, Hyperactivity, Poor motor coordi... ORPHA:2203
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Anxiety, Simple febrile seizure, Seizure, Attention deficit hyperactivity disorder ORPHA:464311
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Seizure, Aggressive behavior, Tremor ORPHA:85293
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Anxiety, Hyperactivity, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Panic att... ORPHA:353281
Brain-Lung-Thyroid Syndrome
Incoordination, Choreoathetosis, Intention tremor, Apraxia, Involuntary movements, Hyperactivity,... ORPHA:209905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Generalized-onset seizure, Motor stereotypy, No social interaction, Focal myoclonic... ORPHA:508533
Hydroxykynureninuria
Hypertonia, Motor stereotypy ORPHA:79155
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Motor stereotypy, Self-injurious behavior, Spasticity, Seizure, Hyperkin... ORPHA:468631
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cystinosis
Abnormal pyramidal sign, Motor stereotypy ORPHA:213
Trichotillomania
Hair-pulling OMIM:613229
Joubert Syndrome 1
Hemifacial spasm, Hyperactivity, Ataxia, Aggressive behavior, Self-mutilation, Oculomotor apraxia OMIM:213300
Bainbridge-Ropers Syndrome
Self-injurious behavior, Hypertonia, Seizure, Recurrent hand flapping OMIM:615485
Dpagt1-Cdg
Hypertonia, Generalized myoclonic seizure, Head-banging, Emotional blunting, Aggressive behavior,... ORPHA:86309
Stankiewicz-Isidor Syndrome
Micropenis, Hyperactivity, Hypospadias, Ureteral duplication OMIM:617516
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy, Febrile seizure (wi... ORPHA:513456
Mucopolysaccharidosis Type 2
Motor stereotypy, Hyperactivity, Aggressive behavior, Impulsivity, Seizure ORPHA:580
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hand tremor, Hyperactivity, Poor gross motor coordination, Ataxia, Aggressive behavior... OMIM:614756
Mend Syndrome
Abnormal social behavior, Hyperactivity, Limb hypertonia, Aggressive behavior, Seizure ORPHA:401973
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Stereotypical hand wringing, Anxiety, Generalized myoclonic seizure, Ataxia, Aggr... ORPHA:268261
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Seizure, Hemiparesis, Aggressive behavior ORPHA:369950
Norrie Disease
Motor stereotypy, Self-injurious behavior, Anxiety, Irritability, Clonus, Attention deficit hyper... ORPHA:649
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Panic att... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Panic att... ORPHA:353277
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Self-injurious behavior, Anxiety, Clonus, Depression, Seizure, Attention defici... ORPHA:534
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Oculomotor apraxia, Seizure, Hypertonia OMIM:115150
Mgat2-Cdg
Stereotypical hand wringing, Seizure, Infantile spasms ORPHA:79329
Legius Syndrome
Hyperactivity, Nephrolithiasis, Male urethral meatus stenosis, Attention deficit hyperactivity di... ORPHA:137605
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Monosomy 22Q13.3
Hair-pulling, Seizure, Hyperactivity ORPHA:48652
1P36 Deletion Syndrome
Self-injurious behavior, Hemiplegia/hemiparesis, Seizure, Motor stereotypy ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Chronic kidney disease, Self-mutilation, Abnormal emotion/affect beha... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Bilateral tonic-clonic seizure on awakening, Involuntary movements, ... ORPHA:438213
Mowat-Wilson Syndrome
Impaired social interactions, Atypical absence seizure, Happy demeanor, Motor stereotypy, Anxiety... ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Stereotypical body rocking, Low frustration tolerance, Atonic seizure, Focal impaired awareness s... OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Atypical absence seizure, Motor stereotypy, Focal-onset seizure, Spasticity, Poor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Atypical absence seizure, Motor stereotypy, Focal-onset seizure, Spasticity, Poor... ORPHA:261552

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 Elfn2

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 Elfn2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ELFN2 is a postsynaptic cell adhesion molecule with essential roles in controlling group III mGluRs in the brain and neuropsychiatric behavior. Molecular psychiatry (September 2019) Elfn2tm1(KOMP)Vleg PMC6874751

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MGI Allele Allele Type Produced
Elfn2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Elfn2tm403059(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elfn2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Elfn2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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