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

Download data as:  TSV  XLS

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Select physiological systems to view:
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 510)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 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
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
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
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia ORPHA:181393
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia OMIM:612526
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Cataplexy, Memory impairment, Spasticity, Dementia OMIM:604121
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Cognitive impairment, Rigidity, Memory impairment, Falls, Tremor, Un... ORPHA:683
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Hyperprolinemia, Type I
Motor stereotypy, Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Resting tremor, Mental deterioration, Babinski sign, Head tremor, Memory impa... ORPHA:314404
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Aceruloplasmine... OMIM:604290
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypoglycemia, Hyper... ORPHA:79237
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Memory impairment, Gait disturbance, Fronto... OMIM:600795
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Spasticity OMIM:617393
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Mental deterioration, Abnormality of extrapyramidal motor function, Memory impa... ORPHA:275864
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Spastic tetraparesis OMIM:619470
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait OMIM:614063
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia OMIM:619150
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Inability to walk, Spasticity OMIM:617820
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Cognitive impairment, Myoclonus, Hyperkinetic movements, Ste... ORPHA:561854
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... ORPHA:2457
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia, Diabetes mellitus, Insulin res... ORPHA:528
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Disseminated Sclerosis With Narcolepsy
Narcolepsy, Cataplexy OMIM:223300
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Elevated circulating creatin... ORPHA:353327
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... ORPHA:168782
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ... ORPHA:48818
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Niemann-Pick Disease Type C
Narcolepsy, Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Cognitive impairment, ... ORPHA:646
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Frontotemporal dementia, Spasticity OMIM:612069
Narcolepsy 3
Narcolepsy, Cataplexy OMIM:609039
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder OMIM:613670
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Hyperactivity OMIM:609425
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... ORPHA:79264
Narcolepsy 1
Narcolepsy, Cataplexy OMIM:161400
Narcolepsy 7
Narcolepsy, Cataplexy OMIM:614250
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Spasticity, Chorea ORPHA:88616
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Hyperactivity, Tremor, Spasticity OMIM:618718
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:151660
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, ... OMIM:613280
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, H... ORPHA:79240
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Pick Disease Of Brain
Motor stereotypy, Frontotemporal dementia OMIM:172700
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Mental deteriorat... ORPHA:168491
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... OMIM:248370
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity OMIM:615541
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Acute hyperammonemia, Ataxia, Cognitive impairment, Hyperammonemia, Hyperglutam... ORPHA:927
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Spasticity OMIM:610042
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyceridemia, Hyperchol... ORPHA:264580
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral palsy, Chorea, Atte... OMIM:617600
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait OMIM:618205
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, H... ORPHA:370
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Hyperactivity, Stereotypical hand wringing, Gait disturbance, Incoordin... OMIM:614104
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy OMIM:619690
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Shukla-Vernon Syndrome
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618342
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder, Cognitive impa... ORPHA:98784
Xq28 (MECP2) duplication
Progressive spasticity, Motor stereotypy, Inability to walk, Gait ataxia DECIPHER:45
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, Hyperammonemia, Increased serum pyruvate, Ster... ORPHA:778
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity ORPHA:457240
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk ORPHA:411986
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... ORPHA:309854
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... OMIM:619580
Christianson Syndrome
Motor stereotypy, Gait ataxia, Truncal ataxia ORPHA:85278
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity ORPHA:530983
Coffin-Siris Syndrome 6
Motor stereotypy, Tics, Attention deficit hyperactivity disorder OMIM:617808
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait OMIM:617807
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk OMIM:619877
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617044
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... OMIM:619121
African Trypanosomiasis
Narcolepsy, Akinesia, Hemiparesis, Gait disturbance, Tremor, Difficulty walking, Involuntary move... ORPHA:3385
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypoglycemic seizures, Hyperuricemia, Xanthel... ORPHA:79259
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Hyperactivity ORPHA:228402
Potocki-Lupski Syndrome
Motor stereotypy, Hypocholesterolemia, Hyperactivity OMIM:610883
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder ORPHA:10
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618825
Cystinosis
Motor stereotypy, Hypophosphatemia, Hypokalemia, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Inability to walk, Rigidity, Chorea, Progressive spasticity, Repetitive... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Gait disturbance, Attention defici... OMIM:300986
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Broad-based gait, Elevated circulating creatine concentration, Gait... OMIM:300352
Galloway-Mowat Syndrome 6
Motor stereotypy, Hypoalbuminemia OMIM:618347
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity ORPHA:3306
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:313892
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bilateral Generalized Polymicrogyria
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus ORPHA:208447
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Hyperlipidemia, Hyponatremia ORPHA:293987
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity ORPHA:391307
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity OMIM:618027
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor ORPHA:238750
Radio-Tartaglia Syndrome
Motor stereotypy, Gait imbalance, Ataxia, Tremor, Attention deficit hyperactivity disorder OMIM:619312
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Type I diabetes mellitus, ... OMIM:606721
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Head tremor OMIM:619428
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Difficulty walking, Hyperactivity OMIM:123450
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Broad-based gait OMIM:616351
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Ste... OMIM:300912
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Eyelid myoclonus, Spasticity, Chorea ORPHA:178469
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis OMIM:619435
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity OMIM:300486
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder ORPHA:449291
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Hypercalcemia ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Tremor, Attention deficit hyperactivity disorder OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Hyperactivity OMIM:617796
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia OMIM:607625
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk OMIM:617802
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Paro... ORPHA:261197
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Elevated circulating creatine kinase concentration, Progress... ORPHA:496641
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Stereotypical hand wringing, Tremor, Spas... OMIM:619229
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Limb hypertonia, Spasticity, High nonceruloplasmin-bound ser... ORPHA:457351
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing ORPHA:319671
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Incoordination, Gait ataxia OMIM:616579
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Hyperactivity OMIM:615873
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypercholesterolemia ORPHA:273
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Abnormal circulating tryptophan concentration ORPHA:79155
22Q11.2 Duplication Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1727
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Spasticity, Spastic tetrapleg... ORPHA:300570
Rett Syndrome, Congenital Variant
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia OMIM:613454
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cerebral palsy OMIM:618914
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Chromosome 5P13 Duplication Syndrome
Motor stereotypy OMIM:613174
Transketolase Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder, Elevated circulating ribitol concentr... ORPHA:488618
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... ORPHA:522077
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:619103
White-Sutton Syndrome
Motor stereotypy, Hyperactivity, Tics, Waddling gait OMIM:616364
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Broad-based gait, Hypertonia, Hyperactivity, H... OMIM:619475
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Phelan-Mcdermid Syndrome
Motor stereotypy, Broad-based gait, Unsteady gait, Tongue thrusting OMIM:606232
Trichohepatoenteric Syndrome 1
Cognitive impairment, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Incre... OMIM:222470
2Q37 Microdeletion Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1001
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy ORPHA:397612
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Unsteady gait ORPHA:457279
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping OMIM:615485
Rauch-Steindl Syndrome
Motor stereotypy, Hyperactivity OMIM:619695
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Inability to walk OMIM:300672
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Unsteady gait OMIM:212066
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Spasticity OMIM:615802
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Wiedemann-Steiner Syndrome
Motor stereotypy, Hyperactivity, Psychomotor deterioration ORPHA:319182
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Myoclonic spasms, Clonus, Lower limb spasticity ORPHA:447997
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Memory impairment, Chorea, Choreoathetosis, ... ORPHA:217253
White-Sutton Syndrome
Motor stereotypy, Incoordination, Hyperactivity ORPHA:468678
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia OMIM:610954
7Q11.23 Microduplication Syndrome
Motor stereotypy, Unsteady gait, Hyperactivity, Dysmetria ORPHA:96121
Kleefstra Syndrome 1
Motor stereotypy OMIM:610253
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus ORPHA:508533
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... OMIM:614756
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Mucopolysaccharidosis Type 2
Motor stereotypy, Hyperactivity, Cognitive impairment, Mental deterioration, Progressive neurolog... ORPHA:580
Kleefstra Syndrome
Motor stereotypy ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:619005
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... OMIM:301030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Attention deficit hyperactivity disorder, Gait disturbance ORPHA:464311
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity, Gait disturbance ORPHA:464306
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:177907
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Spasticity ORPHA:468631
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:619575
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Hyperactivity OMIM:619512
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Motor stereotypy OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsiv... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Hyperactivity, Poor coordination OMIM:309590
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Unsteady gait OMIM:616682
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia OMIM:616393
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Difficulty walking OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy OMIM:301066
Arboleda-Tham Syndrome
Motor stereotypy, Gait imbalance, Lower limb hypertonia OMIM:616268
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Hyperbilirubinemia OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Social and occupational deterioration, Hyperactivity ORPHA:353281
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Motor stereotypy OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
1P36 Deletion Syndrome
Motor stereotypy, Hemiplegia/hemiparesis, Gait disturbance ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Social and occupational deterioration, Hyperactivity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Social and occupational deterioration, Hyperactivity ORPHA:353277
Norrie Disease
Motor stereotypy, Hypertonia, Attention deficit hyperactivity disorder, Clonus ORPHA:649
Primrose Syndrome
Motor stereotypy, Ataxia, Elevated alpha-fetoprotein, Tics, Attention deficit hyperactivity disorder OMIM:259050
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Broad-based gait, Inability to walk, Poor fine motor coordination, Spasticity ORPHA:261537
Mowat-Wilson Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Spasticity ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Broad-based gait, Inability to walk, Poor fine motor coordination, Spasticity 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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome. Brain structure & function (May 2020) Btbd9tm1c(EUCOMM)Wtsi PMC7429108
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 (with selection cassette) Mice, Tissue
Btbd9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Btbd9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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