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 grip strength Slc9a9em1(IMPC)J HOM Early adult 4.56×10-05
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 Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

8 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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:608636
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria, Impaired social interactions OMIM:606053
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Poor eye contact, Involuntary movements, Spasticity, Impaired ... OMIM:617820
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... OMIM:300495
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... OMIM:608049
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Chronic lacti... ORPHA:391417
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Hypsarrhythmia OMIM:617830
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Motor stereotypy OMIM:618709
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, EEG with generalized epileptiform disch... ORPHA:88616
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Myoclonus, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:561854
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Atypical Rett Syndrome
EEG abnormality, Poor eye contact, Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing... ORPHA:3095
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... ORPHA:280763
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cdkl5-Deficiency Disorder
Multifocal epileptiform discharges, Poor eye contact, Stereotypical hand wringing ORPHA:505652
Trichotillomania
Hair-pulling OMIM:613229
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality OMIM:239500
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Dopa-Responsive Dystonia
Abnormal social behavior, Poor coordination, Abnormality of extrapyramidal motor function, Fatiga... ORPHA:255
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Hypsarrhythmia ORPHA:500545
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spasticity OMIM:617695
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Simplified gyral pattern, Motor stereotypy, Tremor OMIM:619470
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Continuous spike and waves during slow sleep, No soci... OMIM:619428
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Poor eye contact, Myoclonus, Hypsarrhythmia, Multifocal epileptiform discharges ORPHA:411986
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Pronoun reversal, Recurrent hand flapping, Clumsiness OMIM:615032
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Stereotypical hand wringing, Chorea OMIM:618760
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Spasticity, Impaired social interactions OMIM:610042
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Rett Syndrome, Congenital Variant
Motor stereotypy, EEG abnormality, Poor eye contact, Chorea, Athetosis, Tongue thrusting, Spastic... OMIM:613454
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions ORPHA:544254
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Poor eye contact, Cerebral palsy, Stereotypical hand wringing, EEG... ORPHA:163681
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, EEG abnormality, Spasticity OMIM:618718
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Poor coordination OMIM:619717
Fragile X Syndrome
Periventricular heterotopia, Poor eye contact, Recurrent hand flapping OMIM:300624
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia OMIM:609425
Childhood Disintegrative Disorder
Motor stereotypy, Impaired social interactions ORPHA:168782
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior ORPHA:352490
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, EEG with continuous slow activity, Fasciculations, Upper motor neuron dysfuncti... ORPHA:275864
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy OMIM:619690
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Gait ataxia, Poor eye contact, Spasticity OMIM:617807
Potocki-Lupski Syndrome
Motor stereotypy, EEG abnormality, Poor eye contact OMIM:610883
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Simplified gyral pattern, Hypsarrhythmia, Hypertonia OMIM:619877
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... ORPHA:168491
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... ORPHA:79264
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Poor eye contact, Rigidity, Chorea, Progressive spasticity, Repetitive ... OMIM:300260
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Poor eye contact, EEG with spike-wave complexes, EEG w... ORPHA:522077
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping OMIM:617268
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Dece... ORPHA:309263
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Tics, Recurrent hand flapping OMIM:617788
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Decerebrate rigidity, ... ORPHA:309256
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Poor eye contact, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Oculomotor apraxia, Spastic diplegia, Polymicrogyria, Type II liss... ORPHA:300570
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... OMIM:300912
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Limb myoclonus, Abnormal social behavior ORPHA:64280
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia OMIM:616579
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Poor eye contact, Recurrent hand flapping, Shyness, Impaired social interactions ORPHA:449291
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Dece... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy OMIM:615541
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, EEG with multifocal slow activity, Stereotypical hand wringing ORPHA:289266
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, EEG abnormality, Poor eye contact, EEG with frontal sharp slow waves, Limb hype... ORPHA:457351
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia OMIM:618205
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Gray matter heterotopia, Poor eye contact, Tremor OMIM:619312
Christianson Syndrome
Motor stereotypy, Gait ataxia, Truncal ataxia ORPHA:85278
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Increased serum lactate, Stereotypical hand wrin... ORPHA:778
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy OMIM:619293
Laron Syndrome
Hypercholesterolemia ORPHA:633
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Incoordination, Ataxia, Stereotypical hand wringing OMIM:614104
Xq28 (MECP2) duplication
Progressive spasticity, Motor stereotypy, Gait ataxia DECIPHER:45
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
D-Glyceric Aciduria
Opisthotonus, Metabolic acidosis, Myoclonus, Tongue thrusting, Spasticity, Hypsarrhythmia, Spasti... OMIM:220120
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Cri-Du-Chat Syndrome
Overfriendliness, Hypertonia, Motor stereotypy OMIM:123450
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Tremor, Hyperkinetic movements, Upper limb spasticity ORPHA:457240
Hydroxykynureninuria
Metabolic acidosis, Hypertonia, Motor stereotypy, Renal tubular acidosis ORPHA:79155
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea OMIM:617600
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
EEG abnormality, Oromotor apraxia, Spasticity, Repetitive compulsive behavior ORPHA:391372
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Spastic ataxia OMIM:618906
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... ORPHA:261197
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Increased theta frequency activity in EEG, Involuntary m... ORPHA:98784
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Speech apraxia, Spasticity, Impaired social interactions, Poor hand... OMIM:300352
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Chorea, Spasticity, Bilateral generalized polymicrogyria, Eyelid myoclonus ORPHA:178469
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Perisylvian polymicrogyria, Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Spastic t... OMIM:619121
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Coffin-Siris Syndrome 6
Motor stereotypy, Tics OMIM:617808
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper limb spasticity, Myo... OMIM:619229
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia ORPHA:10
Bilateral Generalized Polymicrogyria
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus ORPHA:208447
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor ORPHA:238750
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping OMIM:620021
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, EEG abnormality, Recurrent hand flapping, Myoclonus, Tongue thrusting, EEG with abnormall... ORPHA:98794
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Polymicrogyria OMIM:617751
Galloway-Mowat Syndrome 6
Motor stereotypy OMIM:618347
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Polymicrogyria ORPHA:500159
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Angelman Syndrome
Ataxia, EEG abnormality, Poor eye contact, Recurrent hand flapping, Myoclonus, Tongue thrusting, ... ORPHA:72
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping OMIM:613192
Phelan-Mcdermid Syndrome
Motor stereotypy, Impaired social interactions, Poor eye contact, Tongue thrusting OMIM:606232
Rett Syndrome
EEG abnormality, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity OMIM:312750
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Interictal epileptiform activity OMIM:617802
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia ORPHA:927
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:228402
Distal Xq28 Microduplication Syndrome
Poor eye contact, Stereotypical body rocking ORPHA:293939
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping OMIM:300986
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy OMIM:618825
Angelman Syndrome Due To A Point Mutation
Ataxia, EEG abnormality, Recurrent hand flapping, Tongue thrusting ORPHA:411511
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing ORPHA:319671
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Tics OMIM:616364
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy ORPHA:3306
Coffin-Siris Syndrome 7
Motor stereotypy OMIM:618027
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pyruvate Carboxylase Deficiency
Ataxia, Poor eye contact, Recurrent hand flapping, Metabolic acidosis, Increased serum lactate, A... ORPHA:3008
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy ORPHA:313892
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting ORPHA:98795
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping OMIM:615516
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy OMIM:617044
Chromosome 5P13 Duplication Syndrome
Motor stereotypy OMIM:613174
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cerebral palsy OMIM:618914
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting ORPHA:77299
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia, EEG abnormality ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Tremor OMIM:617061
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Impaired social interactions, Poor eye contact, Recurrent hand flapping OMIM:156200
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Myoclonus, No social interaction, Rigidity, Chorea, EEG with temp... ORPHA:217253
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Hypertonia, Isometric tremor, EEG abnormality, Poor eye contact, Ataxia, Motor stere... OMIM:619475
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy OMIM:618504
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Increased serum lactate, Repetitive compulsive behavior, Lower limb spasti... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy OMIM:616351
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Polymicrogyria, Chorea, Choreoath... OMIM:619777
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasticity OMIM:301030
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy ORPHA:391307
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Abnormal pyramidal sign, Nonprogre... ORPHA:314647
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Focal polymicrogyria OMIM:619103
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Simplified gyral pattern, Pachygyria, Stereotypical hand wringing OMIM:619179
Cystinosis
Motor stereotypy, Abnormal pyramidal sign ORPHA:213
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Spasticity OMIM:300486
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Tremor, Speech apraxia, Recurrent hand flapping OMIM:619680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus ORPHA:508533
7Q11.23 Microduplication Syndrome
Motor stereotypy, Simplified gyral pattern, Impaired social interactions, Dysmetria ORPHA:96121
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Repetitive compulsive behavior ORPHA:401777
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Spasticity OMIM:615802
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Periventricular heterotopia, Abnormal pyramidal sign, Hyperkinetic ... ORPHA:468631
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Recurrent hand flapping OMIM:615485
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, Intentio... ORPHA:646
22Q11.2 Duplication Syndrome
Motor stereotypy ORPHA:1727
Dihydropyrimidine Dehydrogenase Deficiency
Multifocal epileptiform discharges, EEG abnormality, Hypertonia, Abnormal social behavior ORPHA:1675
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Impaired social interactions, Abnormal social behavior ORPHA:177907
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, EEG abnormality, Poor eye contact, Hypsarrhythmia, Spastic tetrapar... OMIM:301044
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia ORPHA:457279
White-Sutton Syndrome
Motor stereotypy, Incoordination, EEG abnormality ORPHA:468678
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Gait ataxia ORPHA:476126
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia OMIM:212066
2Q37 Microdeletion Syndrome
Motor stereotypy ORPHA:1001
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Kleefstra Syndrome 1
Motor stereotypy OMIM:610253
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia OMIM:610954
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Myoclonic spasms, Hypsarrhythmia, Clonus, Lower limb spasticity ORPHA:447997
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping ORPHA:352577
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, EEG with occipital focal spikes, EEG with parietal focal spikes, EEG with centr... OMIM:301066
Kleefstra Syndrome
Motor stereotypy ORPHA:261494
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Rauch-Steindl Syndrome
Motor stereotypy OMIM:619695
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Motor stereotypy, Renal tubular acidosis OMIM:619575
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing OMIM:612337
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, EEG abnormality OMIM:619005
Mend Syndrome
Limb hypertonia, Abnormal auditory evoked potentials, Abnormal social behavior ORPHA:401973
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Parkinsonism, Repetitive compulsive behavior OMIM:607485
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Cardiofaciocutaneous Syndrome 1
Hypertonia, Tongue thrusting, Oculomotor apraxia OMIM:115150
21Q22.11Q22.12 Microdeletion Syndrome
Stereotypical body rocking, Tongue thrusting ORPHA:261323
Transketolase Deficiency
Motor stereotypy ORPHA:488618
Mgat2-Cdg
Stereotypical hand wringing, Hypsarrhythmia ORPHA:79329
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363958
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Motor stereotypy OMIM:619297
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Motor stereotypy ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, EEG abnormality, Increased serum lactate, Proximal renal tubular acidosis, Clonus ORPHA:534
Choreoacanthocytosis
Apathy, Head-banging, Self-injurious behavior, Irritability, Anxiety, Self-mutilation of tongue a... ORPHA:2388
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Pachyg... ORPHA:513456
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Impaired social interactions, EEG abnormality ORPHA:353281
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Spastic diplegia, Cerebral palsy, Limb hypertonia, Stereotypical hand wringing, Spasticit... OMIM:619950
Wiedemann-Steiner Syndrome
Motor stereotypy ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy ORPHA:464306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Dpagt1-Cdg
Hypertonia, Ataxia, Stereotypical body rocking, Tremor, Hypsarrhythmia, EEG with generalized slow... ORPHA:86309
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy OMIM:300855
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior ORPHA:805
Arboleda-Tham Syndrome
Motor stereotypy, Lower limb hypertonia OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Poor coordination OMIM:309590
Mucopolysaccharidosis Type 2
Motor stereotypy, Decreased nerve conduction velocity ORPHA:580
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Impaired social interactions, EEG abnormality ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Impaired social interactions, EEG abnormality ORPHA:353277
1P36 Deletion Syndrome
Motor stereotypy, EEG abnormality, Hemiplegia/hemiparesis ORPHA:1606
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Poor gross motor coordination, Hand tremor, Dysmetria, Gait ataxia OMIM:614756
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hemiparesis, Tongue thrusting ORPHA:369950
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Williams Syndrome
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Tremor, Involuntary movements, Spa... ORPHA:904
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Stereotypical hand wringing ORPHA:268261
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Mowat-Wilson Syndrome
Motor stereotypy, Periventricular heterotopia, Ataxia, EEG with spike-wave complexes, Polymicrogy... ORPHA:2152
Wolf-Hirschhorn Syndrome
Motor stereotypy, EEG abnormality OMIM:194190
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Norrie Disease
Motor stereotypy, Hypertonia, EEG abnormality, Clonus ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Myoclonus, Involuntary movements, Exaggerated startle response ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Periventricular heterotopia, EEG abnormality, Poor fine motor coordination, Pol... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Periventricular heterotopia, EEG abnormality, Poor fine motor coordination, Pol... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
EEG abnormality, Stereotypical body rocking OMIM:619503
Primrose Syndrome
Motor stereotypy, Ataxia, Tics OMIM:259050

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

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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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