Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 9
Synonyms:
5730527A11Rik,  Nhe9

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 circulating alanine transaminase level Slc9a9em1(IMPC)J HOM   Late adult 6.82×10-07
increased grip strength Slc9a9em1(IMPC)J HOM Early adult 4.59×10-05
increased circulating HDL cholesterol level Slc9a9em1(IMPC)J HOM Early adult 8.47×10-05

Download data as:  TSV  XLS

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

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

Human diseases caused by Slc9a9 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 Slc9a9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autism, Susceptibility To, 8
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:607373
Autism
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:209850
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Reduced social reciprocity, Motor stereot... OMIM:608636
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Reduced social reciprocity, Motor stereotypy OMIM:606053
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Abnormal social behavior ORPHA:436151
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Reduced social reciprocity, Motor stereotypy OMIM:617820
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Motor stereotypy, EEG abnormality, Bruxism, Aggressive behavior OMIM:619150
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:617171
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Autism, Susceptibility To, 3
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:608049
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Motor stereotypy OMIM:618709
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism, Paroxysmal bu... OMIM:618718
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... ORPHA:275864
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Motor stereotypy OMIM:617830
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Foxg1 Syndrome
Stereotypical hand wringing, Reduced social reciprocity, Motor stereotypy, Pachygyria, Bruxism, P... ORPHA:561854
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Polymicrogyria OMIM:615282
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Simplified gyral pattern, Motor stereotypy, Aggressive behavior OMIM:619470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Motor stereotypy OMIM:620065
Hsd10 Disease
Chronic lactic acidosis, Dysphagia, Abnormal social behavior ORPHA:391417
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Excessive shyness ORPHA:280763
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity diso... OMIM:610042
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Trichotillomania
Hair-pulling OMIM:613229
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Baker-Gordon Syndrome
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:618218
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:609425
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Childhood Disintegrative Disorder
Reduced social reciprocity, Motor stereotypy ORPHA:168782
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Inappropriate laughter, Motor stereotypy, Stereotypical hand wringing OMIM:614104
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal temper tantrums, Motor stereotypy, Abnormal social behavior ORPHA:530983
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Excessive shyness, Reduced soci... ORPHA:449291
Christianson Syndrome
Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, Attention ... ORPHA:352490
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Rett Syndrome, Congenital Variant
Tongue thrusting, Reduced social reciprocity, Motor stereotypy, Simplified gyral pattern, Pachygy... OMIM:613454
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Self hugging, Motor stereotypy, ... OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Stereotypica... OMIM:300912
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Ab... ORPHA:64280
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Dysphagia, Motor stereotypy OMIM:617435
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Motor stereotypy OMIM:619317
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy OMIM:618917
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, Bruxism, Aggressive be... OMIM:618342
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Simplified gyral pattern, Motor stereotypy OMIM:619877
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Multifocal epileptiform discharges, Motor stereotypy ORPHA:411986
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Pontocerebellar Hypoplasia, Type 11
Attention deficit hyperactivity disorder, Self-injurious behavior, Dysphagia, Motor stereotypy OMIM:617695
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Motor stereotypy, Oral-pharyngeal dysphagia OMIM:610883
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Self-injurious behavi... OMIM:600430
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Motor stereotypy, Attention deficit hyper... OMIM:619580
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620292
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Cri-Du-Chat Syndrome
Hyperactivity, Oppositional defiant disorder, Motor stereotypy, Overfriendliness, Self-mutilation... OMIM:123450
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Laron Syndrome
Hypercholesterolemia ORPHA:633
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... OMIM:618825
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Overfriendliness OMIM:619293
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Motor stereotypy, Interictal EEG abnormality ORPHA:79264
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... ORPHA:313892
Rett Syndrome
Agitation, Stereotypical hand wringing, Increased circulating lactate concentration, Motor stereo... ORPHA:778
Coffin-Siris Syndrome 6
Attention deficit hyperactivity disorder, Tics, Motor stereotypy OMIM:617808
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, EEG with focal spikes, Increased theta frequency activity in EE... ORPHA:98784
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed early-childhood social milestone development, Polymicrogyria, Type II lissencephaly, Redu... ORPHA:300570
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Polymicrogyria, Motor stereotypy OMIM:617751
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Xq28 (MECP2) duplication
Dysphagia, Motor stereotypy DECIPHER:45
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Overfriendliness OMIM:616579
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... OMIM:300986
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy OMIM:618027
Hydroxykynureninuria
Metabolic acidosis, Motor stereotypy, Renal tubular acidosis ORPHA:79155
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy ORPHA:397612
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Disinhibition, Abnormal social behavior ORPHA:1020
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Reduced social reciprocity, Motor stereotypy, Aggressiv... OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity, Motor... OMIM:615656
Alazami Syndrome
Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing ORPHA:319671
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy OMIM:619092
White-Sutton Syndrome
Hyperactivity, Tics, Abnormality of visual evoked potentials, Motor stereotypy, Overfriendliness,... OMIM:616364
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy OMIM:613443
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:618430
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Radio-Tartaglia Syndrome
Gray matter heterotopia, Impulsivity, Dysphagia, Motor stereotypy, Attention deficit hyperactivit... OMIM:619312
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy OMIM:618004
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self... OMIM:617061
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Motor stereotypy ORPHA:500159
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity, Motor stereotypy ORPHA:261197
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Dysphagia, Motor stereotypy OMIM:617802
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Phelan-Mcdermid Syndrome
Tongue thrusting, Reduced social reciprocity, Motor stereotypy, Bruxism, Aggressive behavior OMIM:606232
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Bruxism, Dysphagia, Motor stereotypy OMIM:300260
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Motor stereotypy ORPHA:457240
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Motor stereotypy, Obsessive-compulsive trait OMIM:617796
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy OMIM:615802
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Dysphagia, Motor stereotypy ORPHA:572013
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Compulsive behaviors, Motor stereotypy OMIM:613174
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Motor stereotypy, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Perisylvian polymicrogyria, Motor stereotypy, Aggressiv... OMIM:619121
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperactivity disorde... OMIM:619103
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:618914
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Motor stereotypy ORPHA:927
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Agitation, Hypsarrhythmia, Stereotypical hand wringing, Dysph... OMIM:619229
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal social beh... ORPHA:309256
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Dysphagia, Impulsivity, Aggressive behavior OMIM:619435
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal social beh... ORPHA:309263
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, EEG with frontal sharp slow waves, Motor stereotypy, Self-injurious behavior, EEG... ORPHA:457351
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy OMIM:617807
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics OMIM:619725
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1727
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with focal sharp waves, EEG with series of focal spikes, Repet... ORPHA:522077
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, Simplifie... ORPHA:96121
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:93932
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis, Head-banging, Frequent temper tantrums, Motor stereot... OMIM:619575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... OMIM:620494
White-Sutton Syndrome
Hyperactivity, Compulsive behaviors, Motor stereotypy, Self-injurious behavior, EEG abnormality, ... ORPHA:468678
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal social beh... ORPHA:309271
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Multifocal epileptiform discharges, Agitation, Restrictive behavior, Hyperactivity, Hypsarrhythmi... OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Motor stereotypy OMIM:300486
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1001
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:435638
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation... ORPHA:476126
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Motor stereotypy, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Kleefstra Syndrome 1
Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:610253
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Excessive shyness OMIM:301030
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Rauch-Steindl Syndrome
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619695
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Motor stereotypy, Aggressive behavior ORPHA:457279
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Kleefstra Syndrome
Self-injurious behavior, Self-mutilation, Motor stereotypy, Aggressive behavior ORPHA:261494
Bainbridge-Ropers Syndrome
Self-injurious behavior, Recurrent hand flapping, Motor stereotypy OMIM:615485
Transketolase Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... ORPHA:488618
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling ORPHA:447997
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Dysphagia, Motor ste... OMIM:615873
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Abnormal social behavior, Aggressive behavior ORPHA:401973
Developmental And Epileptic Encephalopathy 100
Polymicrogyria, Dysphagia, Pachygyria, Motor stereotypy, EEG with photoparoxysmal response OMIM:619777
Dihydropyrimidine Dehydrogenase Deficiency
Multifocal epileptiform discharges, EEG abnormality, Abnormal social behavior ORPHA:1675
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, EEG abnormality, Self-mutilation, Motor stereotypy OMIM:619005
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Lissencephaly, Polymicrogyria, Simplified gyral pattern, Motor stereotypy, Pachygyria, Self-injur... ORPHA:468631
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Impulsivity, Repetitive compulsive behavior, Attention d... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, EEG with central focal spikes, EEG with occipital focal spikes, M... OMIM:301066
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal social behavior, Aggressive behavior ORPHA:314647
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Motor stereotypy ORPHA:496641
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Interictal epileptiform activity, EEG with focal epileptiform discharge... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Interictal epileptiform activity, EEG with focal epileptiform discharge... ORPHA:363958
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy OMIM:610954
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Motor stereotypy, Self-injurious b... OMIM:619512
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia ORPHA:534
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Impulsivity, Opposi... ORPHA:580
Wiedemann-Steiner Syndrome
Hyperactivity, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Motor stereotypy ORPHA:464311
Choreoacanthocytosis
Irritability, Socially inappropriate behavior, Hair-pulling, Emotional lability, Depression ORPHA:2388
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy OMIM:301040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Reduced social ... ORPHA:353277
Niemann-Pick Disease, Type C2
Dysphagia, Motor stereotypy OMIM:607625
Kinsship Syndrome
Bruxism, Motor stereotypy OMIM:619297
Niemann-Pick Disease Type C
Abnormal social behavior, Compulsive behaviors, Disinhibition, Dysphagia, Aggressive behavior ORPHA:646
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Motor stereotypy ORPHA:464306
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Motor stereotypy, Attention deficit hyp... OMIM:620330
Cornelia De Lange Syndrome 6
Hair-pulling OMIM:620568
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pachygyria, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy ORPHA:513456
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, EEG abnormality, Motor stereotypy OMIM:301044
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Ogden Syndrome
Dysphagia, Motor stereotypy OMIM:300855
1P36 Deletion Syndrome
Polyphagia, Dysphagia, Motor stereotypy, Self-injurious behavior, EEG abnormality ORPHA:1606
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Arboleda-Tham Syndrome
Dysphagia, Motor stereotypy OMIM:616268
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysphagia, Motor stereotypy OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Motor stereotypy OMIM:309590
Nmda Receptor Encephalitis
Agitation, Hypersexuality, EEG with temporal sharp slow waves, Motor stereotypy ORPHA:217253
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Mowat-Wilson Syndrome
EEG with spike-wave complexes, Polymicrogyria, Reduced social reciprocity, Motor stereotypy, Dysp... ORPHA:2152
Williams Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Overfri... ORPHA:904
Wolf-Hirschhorn Syndrome
EEG abnormality, Motor stereotypy OMIM:194190
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:614756
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy OMIM:619522
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Norrie Disease
Attention deficit hyperactivity disorder, Self-injurious behavior, EEG abnormality, Motor stereotypy ORPHA:649
Primrose Syndrome
Tics, Motor stereotypy, Restlessness, Attention deficit hyperactivity disorder, Self-injurious be... OMIM:259050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Dysphagia, Motor stereotypy, EEG abnormality, Bruxism, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Dysphagia, Motor stereotypy, EEG abnormality, Bruxism, Periventricular heterotopia 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 Slc9a9

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 Slc9a9.

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

Title Journal IMPC Allele PubMed ID
A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry. Nature communications (January 2018) Slc9a9tm2c(KOMP)Wtsi Slc9a9tm2a(KOMP)Wtsi Slc9a9tm2d(KOMP)Wtsi PMC5780507

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc9a9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc9a9tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc9a9tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc9a9em1(IMPC)J Exon Deletion Mice

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