Gene Summary

Name:
BTB (POZ) domain containing 9
Synonyms:
1700023F20Rik

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 fasting circulating glucose level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 1.33×10-05
increased circulating HDL cholesterol level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 1.93×10-08
decreased grip strength Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 3.05×10-09
decreased body length Btbd9tm1b(EUCOMM)Wtsi HOM   Early adult 2.60×10-05
increased circulating cholesterol level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 3.09×10-08

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
Adrenal gland  Section images heterozygote 0.0% (0 of 5)
Aorta  Section images heterozygote 0.0% (0 of 5)
Bone  Section images heterozygote 0.0% (0 of 5)
Brain  Section images heterozygote 20% (1 of 5)
Brainstem  Section images heterozygote 0.0% (0 of 5)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 5)
Cartilage tissue  Section images heterozygote 0.0% (0 of 5)
Cecum  Section images heterozygote 0.0% (0 of 5)
Cerebellum  Section images heterozygote 20% (1 of 5)
Cerebral cortex  Section images heterozygote 0.0% (0 of 5)
Chest bone  Section images heterozygote 0.0% (0 of 5)
Colon  Section images heterozygote 0.0% (0 of 5)
Cranium  Section images heterozygote 0.0% (0 of 5)
Diaphragm  Section images heterozygote 0.0% (0 of 5)
Duodenum  Section images heterozygote 0.0% (0 of 3)
Esophagus  Section images heterozygote 0.0% (0 of 5)
Eye  Section images heterozygote 40% (2 of 5)
Gall bladder  Section images heterozygote 20% (1 of 5)
Harderian gland  Section images heterozygote 20% (1 of 5)
Heart  Section images heterozygote 40% (2 of 5)
Hindlimb  Section images heterozygote 40% (2 of 5)
Hippocampus  Section images heterozygote 20% (1 of 5)
Hypothalamus  Section images heterozygote 0.0% (0 of 5)
Ileum  Section images heterozygote 0.0% (0 of 3)
Jejunum  Section images heterozygote 0.0% (0 of 3)
Kidney  Wholemount images  Section images heterozygote 80% (4 of 5)
Large intestine  Section images heterozygote 0.0% (0 of 5)
Liver  Section images heterozygote 0.0% (0 of 5)
Lower urinary tract  Section images heterozygote 0.0% (0 of 5)
Lung  Section images heterozygote 0.0% (0 of 5)
Lymph node  Section images heterozygote 0.0% (0 of 5)
Mammary gland  Section images heterozygote 0.0% (0 of 5)
Olfactory lobe  Section images heterozygote 0.0% (0 of 5)
Oral epithelium  Section images heterozygote 0.0% (0 of 5)
Ovary  Section images heterozygote Not available
Oviduct  Section images heterozygote 20% (1 of 5)
Pancreas  Section images heterozygote 0.0% (0 of 5)
Parathyroid gland  Section images heterozygote 20% (1 of 5)
Penis  Section images heterozygote 0.0% (0 of 5)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 5)
Peyer's patch  Section images heterozygote 0.0% (0 of 5)
Pituitary gland  Section images heterozygote 0.0% (0 of 5)
Prostate gland  Section images heterozygote 20% (1 of 5)
Quadriceps  Section images heterozygote 0.0% (0 of 3)
Skeletal muscle  Section images heterozygote 0.0% (0 of 5)
Skin  Section images heterozygote 40% (2 of 5)
Small intestine  Section images heterozygote 0.0% (0 of 5)
Spinal cord  Section images heterozygote 0.0% (0 of 5)
Spleen  Section images heterozygote 0.0% (0 of 5)
Stomach  Section images heterozygote 0.0% (0 of 5)
Striatum  Section images heterozygote 0.0% (0 of 5)
Submandibular gland  Section images heterozygote 0.0% (0 of 5)
Testis  Section images heterozygote Not available
Thymus  Section images heterozygote 0.0% (0 of 5)
Thyroid gland  Section images heterozygote 40% (2 of 5)
Tongue  Section images heterozygote 20% (1 of 5)
Trachea  Section images heterozygote 0.0% (0 of 5)
Urinary bladder  Section images heterozygote 0.0% (0 of 5)
Uterus  Section images heterozygote 20% (1 of 5)
Vagina  Section images heterozygote Not available
Vascular system  Section images heterozygote 0.0% (0 of 5)
White adipose tissue  Section images heterozygote 0.0% (0 of 5)
Blood N/A heterozygote 0.0% (0 of 5)
Bone marrow N/A heterozygote 0.0% (0 of 5)
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote 0.0% (0 of 5)
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 5)
Sciatic nerve N/A heterozygote 0.0% (0 of 5)
Stomach pyloric region N/A heterozygote 0.0% (0 of 5)
Sublingual gland N/A heterozygote 0.0% (0 of 5)
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 5)
Vas deferens N/A heterozygote 0.0% (0 of 5)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

Associated Images

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

Adult LacZ

LacZ Images Section

123 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Btbd9 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 Btbd9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus ORPHA:181393
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Dementia, Ataxia, Memory impairment, Cataplexy, Spasticity OMIM:604121
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Immunodeficiency 8
Hyperactivity OMIM:615401
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myo... ORPHA:248111
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia OMIM:616222
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Frontotemporal dementia, Myoclonus, Babinski sign, Stereotypy, Memory... OMIM:600795
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Unsteady... ORPHA:683
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperprolinemia, Type I
Stereotypy, Hyperprolinemia, Ataxia, Hyperactivity OMIM:239500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Aceruloplasminemia
Increased circulating ferritin concentration, Cogwheel rigidity, Dementia, Abnormality of extrapy... OMIM:604290
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Abnormality of extrapyramidal motor function, Gait disturbance, Frontotemporal... ORPHA:275864
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Head tremor, Resting tremor, Ataxia, Babinski sign, Memory impairment, Mental deterio... ORPHA:314404
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Transient hyperphenylalaninemia, Oculomotor apraxia, Ataxia, Hyperactivity, Cho... OMIM:612716
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... ORPHA:48818
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Prog... ORPHA:363400
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperglycinemia, Hyperactivity OMIM:605899
Lennox-Gastaut Syndrome
Falls, Mental deterioration, Myoclonus, Hyperactivity ORPHA:2382
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... ORPHA:528
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Motor deterioration, Stereotypy, Progressive lan... ORPHA:168782
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... ORPHA:2457
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Upper... ORPHA:646
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Babinski sign, Stereotypy, Spasticity OMIM:612069
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Increased total iron binding capacity, Spastic paraparesis, Abnormality of extr... OMIM:613280
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy, Hyperactivity OMIM:609425
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive spastic parap... ORPHA:280763
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Disseminated Sclerosis With Narcolepsy
Narcolepsy, Cataplexy OMIM:223300
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hyperlysinemia, Type I
Cognitive impairment, Hyperlysinemia, Hyperactivity OMIM:238700
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Poor motor coordination, Poor fine motor coordination, Loss of ability to w... ORPHA:79264
Landau-Kleffner Syndrome
Gait ataxia, Speech apraxia, Steppage gait, Slurred speech, Social and occupational deterioration... ORPHA:98818
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hypertonia, Lethargy, Hyperactivity OMIM:274270
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Narcolepsy 3
Narcolepsy, Cataplexy OMIM:609039
Narcolepsy 1
Narcolepsy, Cataplexy OMIM:161400
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... ORPHA:79230
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Hyperglutaminemia, Ataxia, Acute hyperammonemia, Hyperalaninemia, Stereotypy, Cognitive... ORPHA:927
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Broad-... OMIM:617695
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Pick Disease Of Brain
Frontotemporal dementia, Stereotypy OMIM:172700
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Narcolepsy 7
Narcolepsy, Cataplexy OMIM:614250
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... ORPHA:139396
Sotos Syndrome 3
Hyperactivity OMIM:617169
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Hemiparesis, Hyperactivity, Involuntary movements, Memory impair... ORPHA:1929
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Dementia, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Hype... ORPHA:43
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Dementia, Gait disturbance, Ataxia, Motor deterioration, M... ORPHA:168491
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Elevated circulat... ORPHA:264580
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Spastic tetraparesis, Abnormal pyramidal sign, Gait disturba... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... ORPHA:370
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Stereotypy, Involuntary movements, Cognitive impairment, Attention deficit h... ORPHA:98784
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperkinetic movements, Ataxia, Hyper... OMIM:271980
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Mental Retardation, Autosomal Dominant 7
Incoordination, Gait disturbance, Ataxia, Stereotypy, Hyperactivity, Stereotypical hand wringing OMIM:614104
Intellectual Developmental Disorder, X-Linked 98
Stereotypy, Hyperactivity, Ataxia, Spasticity OMIM:300912
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dementia, Abnormality of extrapyramidal moto... OMIM:234200
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Increased serum pyruvate, Gait dis... ORPHA:778
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... ORPHA:208447
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Neonatal hyperbilirubinemia, Ba... OMIM:609727
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... ORPHA:485350
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Tongue fasciculations, Fatigable weakness of skelet... ORPHA:166108
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Increased total iron binding capacity, Truncal ataxia, Spastic para... ORPHA:309854
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Spasticity OMIM:617807
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity,... ORPHA:52503
Xq28 (MECP2) duplication
Inability to walk, Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Niemann-Pick Disease, Type C2
Dystonia, Dementia, Abnormal circulating cholesterol concentration, Ataxia, Stereotypy, Cataplexy... OMIM:607625
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Stereotypy OMIM:617808
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Stereotypy ORPHA:411986
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
48,Xxyy Syndrome
Stereotypy, Tremor, Attention deficit hyperactivity disorder, Ataxia ORPHA:10
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypouricemia, Hypertonia, Ataxia, Hyperacti... ORPHA:760
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactivity, Gait imbalan... ORPHA:98794
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Hypertonia, Ataxia, Hyperactivity OMIM:601853
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Frontotemporal dementia, Parkinsonism, Progressive language deterioration, Memory impair... OMIM:607485
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Potocki-Lupski Syndrome
Hypocholesterolemia, Stereotypy, Hyperactivity OMIM:610883
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypoglycemia, Hypertrigl... ORPHA:79259
Cystinosis
Hypophosphatemia, Gait disturbance, Abnormal pyramidal sign, Hypokalemia, Stereotypy ORPHA:213
African Trypanosomiasis
Tremor, Narcolepsy, Akinesia, Difficulty walking, Gait disturbance, Hemiparesis, Paralysis, Invol... ORPHA:3385
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Scissor ... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Spasticity OMIM:300958
Inverted Duplicated Chromosome 15 Syndrome
Stereotypy, Hyperactivity ORPHA:3306
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Hyperactivity ORPHA:369939
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Stereotypy, Hyperactivity ORPHA:391307
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Hyperlysinemia
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic dipl... ORPHA:2203
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Poor hand-eye coordination, Stereotypy, Attention deficit hyperactivi... OMIM:300352
Radio-Tartaglia Syndrome
Tremor, Ataxia, Stereotypy, Gait imbalance, Attention deficit hyperactivity disorder OMIM:619312
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Chorea, Ataxia, Lower limb spasticity, Stereotypy, Progressive spasticity, Rep... OMIM:300260
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Stereotypy, Hyperactivity OMIM:123450
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreoathetosis, Attention deficit h... ORPHA:261197
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Hypernatremia, Hypoglutaminemia, Abnormal pyramidal sign, Increased level of L-... ORPHA:3008
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Recurrent hand flapping, Stereotypy, Hyperactivity ORPHA:449291
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Stereotypy OMIM:619293
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity OMIM:103050
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, I... ORPHA:209905
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Elevated circulating creatine kinase concentration, Ataxia, Stereotypy, Fasciculations,... ORPHA:496641
Mental Retardation, Autosomal Dominant 34
Stereotypy, Broad-based gait OMIM:616351
Choreoacanthocytosis
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Elevated circul... ORPHA:2388
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hyperactivity OMIM:252920
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Torticollis, S... ORPHA:300570
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Hypercalcemia, Stereotypy, Attention deficit hyperactivity disorder ORPHA:476126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Limb hypertonia, Limb dystonia, Stereotypy, High nonceruloplasmin-bound serum ... ORPHA:457351
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Narcolepsy, Hyperlipidemia ORPHA:293987
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Helsmoortel-Van Der Aa Syndrome
Stereotypy, Hyperactivity OMIM:615873
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... ORPHA:465508
Hydroxykynureninuria
Hypertonia, Abnormal circulating tryptophan concentration, Stereotypy ORPHA:79155
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Upper limb spasticity, Ataxia, Lower limb spasticity, Myoclonus, Stere... OMIM:619229
3P25.3 Microdeletion Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Ataxia ORPHA:435638
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1727
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Hyperactivity OMIM:252930
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperact... ORPHA:72
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Hyperactivity, Broad-based gait OMIM:105830
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... ORPHA:522077
Transketolase Deficiency
Attention deficit hyperactivity disorder, Elevated circulating ribitol concentration, Stereotypy ORPHA:488618
Steinert Myotonic Dystrophy
Hypercholesterolemia, Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:273
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Argininemia
Hyperammonemia, Spastic paraparesis, Progressive spastic quadriplegia, Hyperargininemia, Spastic ... OMIM:207800
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Cerebral palsy, Stereotypy OMIM:618914
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619103
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Vocal cord paresis, Fatigable weakness of swallowing muscle... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity OMIM:300486
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Phelan-Mcdermid Syndrome
Unsteady gait, Tongue thrusting, Stereotypy, Broad-based gait OMIM:606232
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia, Cognitive impairment, Incre... OMIM:222470
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Stereotypy, Unsteady gait, Ataxia ORPHA:457279
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Congenital Disorder Of Glycosylation, Type Iia
Unsteady gait, Hypertonia, Stereotypy OMIM:212066
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Stereotypy OMIM:300672
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Lower limb spasticity, Stereotypy, Hyperactivity, Clonus, Myoclonic spasms ORPHA:447997
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Stereotypy, Hyperactivity ORPHA:319182
White-Sutton Syndrome
Incoordination, Stereotypy, Hyperactivity ORPHA:468678
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
7Q11.23 Microduplication Syndrome
Stereotypy, Unsteady gait, Dysmetria, Hyperactivity ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypertonia, Babinski sign, Stereotypy, Spasticity OMIM:615802
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Hypertonia, Stereotypy ORPHA:508533
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Stereotypy, Hyperactivity, Cognitive impairment, Mental det... ORPHA:580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Stereotypy OMIM:619005
Kleefstra Syndrome
Stereotypy ORPHA:261494
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Ataxia, Stereotypy, Dysmetria, Broad-based gait OMIM:617330
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Myoclonus, Hyperactivity, Choreoathetosis, Spasticity ORPHA:1934
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy ORPHA:464311
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Stereotypy, Hyperactivity ORPHA:464306
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Stereotypy ORPHA:177907
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Stereotypy, Spasticity ORPHA:468631
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based ... ORPHA:513456
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy, Hyperactivity OMIM:309590
Arboleda-Tham Syndrome
Lower limb hypertonia, Gait imbalance, Stereotypy OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Stereotypy OMIM:618653
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Social and occupational deterioration, Stereotypy, Hyperactivity ORPHA:353281
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Gait disturbance, Stereotypy ORPHA:1606
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Social and occupational deterioration, Stereotypy, Hyperactivity ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Social and occupational deterioration, Stereotypy, Hyperactivity ORPHA:353284
Rubinstein-Taybi Syndrome 1
Unsteady gait, Poor coordination, Stereotypy, Hyperactivity OMIM:180849
Norrie Disease
Clonus, Hypertonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:649
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Stereotypy OMIM:194190
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Spastic tetraparesis, Stereotypy OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Broad-based gait ORPHA:261537
Mowat-Wilson Syndrome
Inability to walk, Spasticity, Ataxia, Stereotypy, Broad-based gait ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Broad-based gait 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 Btbd9

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 Btbd9.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Neuroscience (May 2020) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi 32446853
The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome. Experimental neurology (November 2019) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi 31715135
The Role of BTBD9 in Striatum and Restless Legs Syndrome. eNeuro (September 2019) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi PMC6787346
Meis1: effects on motor phenotypes and the sensorimotor system in mice. Disease models & mechanisms (June 2017) Btbd9tm1b(EUCOMM)Wtsi PMC5560065

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MGI Allele Allele Type Produced
Btbd9tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Btbd9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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