Gene Summary

Name:
bromodomain containing 7
Synonyms:
bromodomain protein 75 kDa,  BP75,  CELTIX1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
abnormal coat/ hair morphology Brd7tm3a(EUCOMM)Wtsi HET Early adult 8.32×10-07
decreased body weight Brd7tm3a(EUCOMM)Wtsi HET Early adult 8.58×10-06
decreased circulating LDL cholesterol level Brd7tm3a(EUCOMM)Wtsi HET Early adult 6.98×10-12
increased blood uric acid level Brd7tm3a(EUCOMM)Wtsi HET Early adult 2.41×10-08
increased circulating glucose level Brd7tm3a(EUCOMM)Wtsi HET Early adult 6.00×10-05
abnormal behavior Brd7tm3a(EUCOMM)Wtsi HET Early adult 1.08×10-06
decreased leukocyte cell number Brd7tm3a(EUCOMM)Wtsi HET Early adult 2.87×10-05
tremors Brd7tm3a(EUCOMM)Wtsi HET Early adult 7.33×10-06
abnormal vocalization Brd7tm3a(EUCOMM)Wtsi HET   Early adult 9.39×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 94 images

Human diseases caused by Brd7 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 Brd7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia, Spasticity OMIM:308950
Lesch-Nyhan Syndrome
Hemiplegia/hemiparesis, Hyperuricemia, Anemia, Spasticity ORPHA:510
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hirsutism, Hyperuricemia, Insulin-resistant diabetes mellitu... OMIM:604367
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Failure to thrive, Leukopenia, Hypomagnesemia, Ane... OMIM:613845
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Hypoglycemia, Myoclonus, Anemia, Hyperammonemia, Spast... OMIM:246450
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:264070
Beta-Ketothiolase Deficiency
Hyperammonemia, Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Ataxia, Hypoglycemia, E... ORPHA:134
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abn... ORPHA:79299
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:3222
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Autoimmune thrombocytopenia, Hypouricemia, ... ORPHA:760
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypert... ORPHA:79083
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Social and occupational deterioration, Motor deterioratio... ORPHA:168782
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Thrombocytosis, Leukocytosis, Spastic hemiparesis, Nonketotic hypoglycemia, Hyper... ORPHA:20
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Glutathionuria
Tremor OMIM:231950
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Megaloblastic anemia, Hyperuricemia, Opisthotonus, ... OMIM:300322
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Hyperuricemia, Obesity ORPHA:261222
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Mental Retardation, Autosomal Recessive 66
Shyness OMIM:618221
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Weight loss, Hypoglycemia, Nor... ORPHA:199299
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Ataxia OMIM:300661
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Small for gestational a... ORPHA:99886
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus, Spasticity OMIM:615924
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor... ORPHA:79233
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Transient hy... OMIM:128230
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Alstrom Syndrome
Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Trunc... OMIM:203800
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Neonatal hyperbilirubin... ORPHA:348
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Hyperuricemia, Hprt-Related
Hyperuricosuria, Hyperuricemia OMIM:300323
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Hyperphenylalaninemia, Ataxia, Bradykinesia, Parkinsonism, S... OMIM:261640
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Weight loss, Hypoglycemia, Inc... ORPHA:95409
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Extrapyramidal muscular rigidity, Leukocytosis, Chorea, Hyp... ORPHA:94093
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Addison Disease
Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol level, Hyponatremia, Hyp... ORPHA:85138
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Elevated circulating creatine kinase con... OMIM:612953
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Azotemia, Familial
Azotemia OMIM:109160
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Ataxia ORPHA:411543
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Glycogen Storage Disease Ib
Xanthelasma, Neutropenia, Hyperuricemia, Hypoglycemia, Hyperlipidemia OMIM:232220
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Hypermanganesemia, Scissor gait,... ORPHA:521406
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Tremor, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:276608
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411536
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Cystinuria
Hyperuricemia ORPHA:214
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hirsutism, Hyperuricemia OMIM:142625
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Ataxia OMIM:614018
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, Weight loss, ... ORPHA:2298
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Lower limb spas... OMIM:256840
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Elevated circulating creati... OMIM:615673
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Type I diabetes mellitus, Small for gestational age, Hyperglycemia OMIM:618857
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Tremor, Highly arched eyebrow, Hirsutism, Ataxia, Hypoglycemia, Failure to... OMIM:220111
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypercholesterolemia, Xanthelasma, Chronic neutropenia, Hyperuricemia, Hyp... ORPHA:79259
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Elevated circulating creatine kinase concentration OMIM:618387
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Limb fasciculations, Abnormal glucose... ORPHA:90117
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Rigidity, Spasti... ORPHA:33445
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hypoglycemia, Glycosuria, Bicarbonaturia, Fa... OMIM:229600
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Glycosuria, Hypokalemia, Failure to thrive OMIM:227810
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia, Reactive hypoglycemia ORPHA:469
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypoglycemia OMIM:232200
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Fasciculations, Tongue fasciculations, Tremor ORPHA:276435
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Abnormal pyra... ORPHA:363400
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Obesity OMIM:614947
Ataxia-Telangiectasia
Tremor, Hypopigmentation of hair, Premature graying of hair, Lymphopenia, Ataxia, Failure to thri... ORPHA:100
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia ORPHA:2089
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Semantic dementia, Dementia, Abnormal social behavior ORPHA:1020
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Postprandial hyperglycemia, Mildly elevated creatine kinase, Paraly... ORPHA:681
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucose tolerance, Elevated c... OMIM:137920
Cockayne Syndrome
Dry hair, Progressive gait ataxia, Hypertonia, Hyperuricemia, Ataxia, Action tremor, Limb hyperto... ORPHA:191
Hypermanganesemia With Dystonia 1
Tremor, Increased total iron binding capacity, Spastic paraparesis, Abnormality of extrapyramidal... OMIM:613280
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Urocanase Deficiency
Tremor, Ataxia, Fair hair OMIM:276880
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Hemolytic anemia OMIM:615010
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia, Failure to thrive OMIM:248250
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Transient hyperphenylalaninemia, Oculomotor apraxia, Ataxia, Choreoathetosis, Spasticity OMIM:612716
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Maternal Uniparental Disomy Of Chromosome 4
Chaddock reflex, Abetalipoproteinemia, Abnormal erythrocyte morphology, Ataxia, Decreased body we... ORPHA:96180
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Choreoathetosis, Ataxia OMIM:612126
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypoglycemia OMIM:232240
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Lethal Ataxia With Deafness And Optic Atrophy
Tetraplegia, Hypouricemia, Abnormal erythrocyte enzyme level, Ataxia ORPHA:1187
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Oculomotor apraxia, Ataxi... OMIM:208920
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Tremor, Gait ataxia,... ORPHA:48818
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Babinski sign... OMIM:606159
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Opisthotonus, Hypertonia OMIM:615501
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Tremor, Hypertonia, Hyperphenylalaninemia, Abnormal circula... ORPHA:1578
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Tremor, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hirsutism, Dysmetria OMIM:610185
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myoclonus, Dysmetria, Myoclonic... ORPHA:79263
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Failure... OMIM:618156
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Hypertonia, Opisthotonus, Spastic tetraplegia, Myoclonic spasms OMIM:252160
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Hyperuricemia ORPHA:2769
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperphenylalaninemia, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Jaberi-Elahi Syndrome
Tremor, Gait ataxia, Sparse eyebrow, Sparse eyelashes, Dysmetria, Failure to thrive, Choreoatheto... OMIM:617988
Pyruvate Carboxylase Deficiency
Tremor, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Abnormal pyramidal sign, Increased level... ORPHA:3008
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Methylmalonic Aciduria, Cbla Type
Tremor, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Fai... OMIM:251100
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair ORPHA:66633
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age, Hyperglycem... ORPHA:391673
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign, Failure to thrive ORPHA:477673
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... ORPHA:3095
Potocki-Lupski Syndrome
Stereotypy, Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Dysmetria OMIM:614867
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Ataxia, Bradykinesia OMIM:617836
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Frequent falls, Limb myoclonus ORPHA:2590
Ataxia-Telangiectasia
T lymphocytopenia, Tremor, Glucose intolerance, Abnormal hair morphology, Decreased proportion of... OMIM:208900
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hyperuricemia ORPHA:93111
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Weight loss, Bradykinesia, Parkinsonis... OMIM:137440
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:266510
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, ... ORPHA:96
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Sparse hair, Insulin-resistant diabetes mellitus, Brittle ... OMIM:608612
Insulinoma
Tremor, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic hyp... ORPHA:97279
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Limb hypertonia, Small for gestational age, Rigidity, Cerebral palsy ORPHA:70594
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Opisthotonus, Spastic tetraplegia, Myoclonic spasms OMIM:252150
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Alopecia of scalp, Failure to thrive, Splenomegaly OMIM:201100
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Type I diabetes mellitus, Anemia ORPHA:1192
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:607765
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ataxia, Failu... OMIM:312080
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign OMIM:616795
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Obesity ORPHA:3077
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypertrichosis, Severe failur... OMIM:246200
Chylomicron Retention Disease
Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level, Increased body weight, Abdominal obesity OMIM:615954
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Type II diabetes mellitus ORPHA:79095
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Classic Phenylketonuria
Hemiplegia, Tremor, Hypopigmentation of hair, Hyperphenylalaninemia, Hypertonia, Paraplegia ORPHA:79254
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Dysmetria, Babinski sign, Frequent falls OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Poor fine motor coordination, Slu... ORPHA:137898
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, G... ORPHA:2088
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Ataxia, Limb hypertonia, Myoclonus, Failure to thrive, Invol... ORPHA:442835
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Abnormal circulating apoli... ORPHA:14
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Tremor, Sparse eyebrow, Abnormality of the hairline, Failure to thrive... ORPHA:370079
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hyperkinetic movements, Truncal obesity, Small for gestational age, Increased body mass i... OMIM:300957
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Tremor, Hypoproteinemia, Acute hyperammonemia, H... ORPHA:247585
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hirsutism OMIM:175700
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Hand tremor ORPHA:98764
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevat... OMIM:274150
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Weight loss, Eleva... ORPHA:465508
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Sparse scalp h... OMIM:248370
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign OMIM:616505
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Hypocholesterolemia, Spasticity OMIM:618810
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, Ataxia, ... ORPHA:228360
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness ORPHA:280763
Hyperlysinemia
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic dipl... ORPHA:2203
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Slurred speech, Spastic diplegia, Ataxia, Lo... ORPHA:206443
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Hyperkinetic movements, Stereotypy ORPHA:457240
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Tremor, Periodic hypokalemic paresis, Postprandial hyperglycemia, Mildly elevated... ORPHA:79102
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Hypopigmentation of hair, Abnormal dense granules, Silver-gray hair, Im... OMIM:214500
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Short Syndrome
Hyperglycemia, Small for gestational age, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Hyperuricemia, Elevated circulating C-reac... ORPHA:97214
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Early-Onset Schizophrenia
Cognitive impairment, No social interaction, Shyness, Lack of peer relationships ORPHA:96369
Non-Functioning Paraganglioma
Hypercalcemia, Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hirsutism, Insulin-resistant diabetes mellitus, Hypertrig... OMIM:151660
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Eosinophilia ORPHA:99965
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Elevated circulating creatine... ORPHA:3299
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Memory impairment, Dementia, Abnormal social behavior ORPHA:309271
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Large clumps of pigment irr... ORPHA:167
Wolfram Syndrome 1
Tremor, Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus OMIM:222300
Sézary Syndrome
Tremor, Abnormal lymphocyte morphology, Alopecia, Splenomegaly, Nail dystrophy ORPHA:3162
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior ORPHA:309263
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Ataxia, Hypocholesterolemia, Hypoalbuminemia, Failure to thrive OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal sign, Oculo... OMIM:606002
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Low anterior hairline, Premature graying of hair, Insulin resistance, Thick... ORPHA:769
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Mildly elevated creatine kinase, Parkinsonism, Fasciculations, Frequent falls ORPHA:329478
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Tremor, Truncal ataxia, Thick hair, Limb ataxia, Ataxia, Dysmetria, Elevated ... OMIM:617675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Tremor, Ataxia, Hyperalaninemia, Small for gestational age, Failure to thrive, Intention tremor, ... OMIM:614052
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Head ... ORPHA:99027
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Abnormality of extrapyramidal motor function, Megaloblastic anemia, Neutropenia, Thromboc... OMIM:277400
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypopigmentation of hair, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, O... ORPHA:98794
Perry Syndrome
Tremor, Weight loss, Bradykinesia, Parkinsonism, Rigidity OMIM:168605
12Q14 Microdeletion Syndrome
Tremor, Synophrys, Thick eyebrow, Failure to thrive, Abnormality of the spleen, Diabetes mellitus ORPHA:94063
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Parkinsonism, Incoordination OMIM:618049
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Eyelid apraxia, Tremor, Clumsiness, Progressi... ORPHA:199351
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Nail dys... ORPHA:31150
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Weight loss, Glycosuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Failure t... ORPHA:99885
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Tonne-Kalscheuer Syndrome
Shyness OMIM:300978
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Neonatal hypoglycemia, Ataxia, Thrombocytopenia, Limb hypertonia, Spastic tetraplegia, Dy... ORPHA:572798
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Babinski sign, Elevat... OMIM:614298
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Cogwheel rigidity, Glucose intolerance, Abnormality of extrapyramidal motor ... ORPHA:254892
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Poor fine motor coordination, Ankle clonus, Increased serum b... ORPHA:845
Intrahepatic Cholestasis Of Pregnancy
Tremor, Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration ORPHA:69665
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase ORPHA:397744
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Tremor, Poor motor coordination, Chorea, Ataxia, Athetosis, Rigidity ORPHA:25
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Wilson Disease
Tremor, Hemolytic anemia, Poor motor coordination, Glycosuria, High nonceruloplasmin-bound serum ... OMIM:277900
Kaufman Oculocerebrofacial Syndrome
Sparse and thin eyebrow, Sparse hair, Failure to thrive, Hypocholesterolemia OMIM:244450
Scorpion Envenomation
Tremor, Increased circulating creatine kinase MB isoform, Hyperkinetic movements, Ataxia, Glycosu... ORPHA:466677
Tick-Borne Encephalitis
Tremor, Incoordination, Speech apraxia, Leukocytosis, Hyperkinetic movements, Paralysis, Thromboc... ORPHA:297
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal pyramidal s... ORPHA:2131
Parkinson Disease, Late-Onset
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:168600
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea, Hypochromic microcytic anemia, Anemia ORPHA:440713
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morp... ORPHA:79474
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness OMIM:619293
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Tremor, Hemolytic anemia, Normocytic anemia, Normochromic anemia, Splen... OMIM:615512
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Abnormality of extrapyramidal motor function... OMIM:234200
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Poor eye contact, Shyness, Impaired social interactions ORPHA:449291
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Sparse hair, Abnormality of extrapyramidal motor function, Abnormal pyramidal... OMIM:612199
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior ORPHA:314647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Speech apraxia, Chorea, Hyperkinetic movements, Ataxia, Elevated circulating creatine kin... OMIM:615356
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness ORPHA:369891
Cri-Du-Chat Syndrome
Overfriendliness OMIM:123450
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dementia, Abnormal social behavior, Cognitive impairment, M... ORPHA:646
49,Xxxxy Syndrome
Overfriendliness, Shyness ORPHA:96264
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Luscan-Lumish Syndrome
Shyness OMIM:616831
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Tremor, Ataxia, Weight loss OMIM:164310
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Smith-Lemli-Opitz Syndrome
Hypertonia, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia OMIM:270400
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Thick hair, Curly hair, Long eyelashes, Synophrys, Thick eyebrow, Facial h... ORPHA:444077
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia, Obesity ORPHA:293987
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Overfriendliness ORPHA:363958
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Trichothiodystrophy
Impaired social reciprocity ORPHA:33364
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Failure to thrive, Glycosuria OMIM:600001
Mend Syndrome
Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Williams Syndrome
Abnormal social behavior, Overfriendliness ORPHA:904
1P21.3 Microdeletion Syndrome
Shyness ORPHA:293948
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Shyness ORPHA:466791

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 Brd7

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 Brd7.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Brd7tm2a(EUCOMM)Wtsi