Gene Summary

Name:
TBC1 domain family, member 2B
Synonyms:
1810061M12Rik

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
increased mean corpuscular volume Tbc1d2btm1a(EUCOMM)Hmgu HOM Early adult 3.12×10-05
tremors Tbc1d2btm1a(EUCOMM)Hmgu HOM   Early adult 8.51×10-07
increased bone mineral content Tbc1d2btm1a(EUCOMM)Hmgu HOM Early adult 8.64×10-05
decreased circulating serum albumin level Tbc1d2btm1a(EUCOMM)Hmgu HOM Early adult 4.63×10-05
increased lean body mass Tbc1d2btm1a(EUCOMM)Hmgu HOM Early adult 4.96×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbc1d2b 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.

The table below shows human diseases associated to Tbc1d2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Slurred speech OMIM:619323

The table below shows human diseases predicted to be associated to Tbc1d2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Craniosynostosis ORPHA:88643
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Babinski ... ORPHA:64753
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Glutathionuria
Tremor OMIM:231950
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Limb ataxia, Elevated circulating creatine kinase concentration, Truncal ataxia, Chorea, ... OMIM:208920
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia ORPHA:94124
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Hyper... OMIM:277410
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hemiplegia, Ataxia, Hypertonia, ... OMIM:267700
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride... OMIM:246700
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Lower limb hypertonia, Hypomet... ORPHA:2169
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... OMIM:209950
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Dystonia OMIM:615010
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hemiplegia, Ataxia, Hypertonia, ... OMIM:603553
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight, Hypoalbuminemia OMIM:618347
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Periostosis, Hypoalbuminemia OMIM:614441
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Hepatosple... OMIM:609628
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia ORPHA:79320
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... OMIM:261640
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Dystonia, Tremor OMIM:619651
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... ORPHA:529799
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hypertonia, Lower limb hypertonia, Spastic diplegia, Hepatosplenomegaly, Osteo... OMIM:619487
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Osteopenia, Osteoporosis, Macrocytic anemia, Neutropenia OMIM:612562
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... OMIM:613280
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thromb... OMIM:608104
Neurodegeneration With Brain Iron Accumulation 3
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia OMIM:618387
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypoamylasemia, Osteopenia, Le... ORPHA:811
Ménétrier Disease
Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... ORPHA:3124
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... OMIM:612716
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Myopathy, Spheroid Body
Tremor, Elevated circulating creatine kinase concentration OMIM:182920
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Lymphopenia, Hypoalbuminemia OMIM:617575
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Elevated circulating creatine kinase concentration, Fasciculations ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Urocanic Aciduria
Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentration, Gait ataxia ORPHA:210128
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, Hyperbilirubinemia,... ORPHA:14
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Limb ataxia, Ac... ORPHA:48818
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Wolcott-Rallison Syndrome
Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia,... ORPHA:1667
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spasticity, Incr... OMIM:614307
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Dysmetria, Intention tremor, Osteopenia, Thrombocytosis, Hypocholester... OMIM:212065
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Myoclonus, Elevated circulating creatine kinase con... OMIM:619055
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Juvenile Polyposis Syndrome
Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling... OMIM:612953
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia OMIM:617435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Osteopenia, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Elevated circulatin... OMIM:617013
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:313200
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Amoebiasis Due To Entamoeba Histolytica
Anemia, Weight loss, Hypoalbuminemia, Leukocytosis ORPHA:67
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Incoordination, Dystonia OMIM:618049
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Hemolytic anemia, Tremor, Reticul... ORPHA:713
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... ORPHA:70594
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Tremor, ... ORPHA:240085
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia, Anemia, Howell-Jolly... ORPHA:85443
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Leukocyto... OMIM:615673
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Tongue fasciculations OMIM:159950
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ... ORPHA:89842
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... ORPHA:99750
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Spasticity OMIM:618329
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Osteopenia, Osteoporosis, Tremor, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased serum creatinine, Hypocystinemia, Tremor OMIM:617744
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Perry Syndrome
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, B lymphocytopenia, Hypocholesterolemia, Hypoalbumi... ORPHA:79324
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss, Hypokalemia OMIM:613239
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Gait atax... ORPHA:363400
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Myelofi... ORPHA:160
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia OMIM:614831
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia, Poor coordination OMIM:610965
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Dystonia ORPHA:306669
Dopa-Responsive Dystonia
Leg dystonia, Poor coordination, Abnormality of extrapyramidal motor function, Oculogyric crisis,... ORPHA:255
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Park... ORPHA:1578
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Oculomotor apraxia OMIM:614867
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Spl... OMIM:613179
Galloway-Mowat Syndrome 1
Ataxia, Small for gestational age, Spastic tetraplegia, Hypoalbuminemia, Spasticity, Dystonia OMIM:251300
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Babinski sign, Tremor ORPHA:477673
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ... ORPHA:2298
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Hypocalcemia, Reduced bone mineral density, Small for gestation... OMIM:613658
Trichohepatoenteric Syndrome 1
Failure to thrive, Small for gestational age, Splenomegaly, Increased mean platelet volume, Throm... OMIM:222470
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Spastic gait, Spastic ataxia OMIM:616795
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight loss, Hypoalbuminemia, Hypo... ORPHA:88673
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Spasticity OMIM:617729
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Anemia, Hypoalbuminemia, Craniosynostosis ORPHA:79396
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Osteoporosis, Abnormal circulating lipid concentr... ORPHA:186
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Blepharospasm, Babinski sign, Tremor, Writer's c... OMIM:128100
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Pelizaeus-Merzbacher Disease
Failure to thrive, Ataxia, Intention tremor, Abnormal pyramidal sign, Progressive spastic quadrip... OMIM:312080
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hypoalbuminemia OMIM:235510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Parkinsonism, Tremor, Obesity, Lower limb spasticity ORPHA:3077
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hepatosplenomegaly, Hypoalbuminemia, Anemia, Thrombocytopenia ORPHA:505248
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Cranial hyperostosis, Tremor, Upper limb spasticity, Ov... ORPHA:457240
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Anemia, Hypoalbuminemia ORPHA:79076
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hyperammonemia, Pancytopenia, Tremor, Hyperglycinemia, Methylmalonic acidemia,... OMIM:251100
Ddost-Cdg
Tremor, Osteopenia, Failure to thrive, Oromotor apraxia ORPHA:300536
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Spasticity, Tetraplegia OMIM:616586
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx of the ... ORPHA:765
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Truncal ataxia, Tremor, Gait ataxia ORPHA:98764
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... OMIM:274150
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus OMIM:618060
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... ORPHA:97214
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... ORPHA:90363
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Abno... OMIM:606002
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Babinski sign, Elevated circulating creatine kinase concentration... OMIM:614298
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Thrombocy... OMIM:617710
Primary Sclerosing Cholangitis
Splenomegaly, Osteopenia, Hepatosplenomegaly, Osteoporosis, Hypoalbuminemia, Weight loss ORPHA:171
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Tremor, Focal dysto... ORPHA:52368
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240071
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Babinski sign, Reduced bone mineral density ORPHA:83629
Classic Phenylketonuria
Hemiplegia, Hypertonia, Tremor, Paraplegia, Hyperphenylalaninemia ORPHA:79254
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Lymphopenia, Progressive cerebellar ataxia, Elevated alpha-fetoprotein... OMIM:208900
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Dystonia OMIM:615530
Tetanus
Hypertonia, Opisthotonus, Elevated circulating creatine kinase concentration, Rigidity, Tremor, S... ORPHA:3299
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Right hemiplegia, Tremor, ... OMIM:607426
Triosephosphate Isomerase Deficiency
Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Tremor, ... OMIM:615512
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Ataxia, Osteopenia, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:612199
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Hypertonia, Splenomegaly, Hypocholesterolemia, ... OMIM:270400
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsonism, Acanth... OMIM:234200
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Spasticity, Tremor OMIM:176500
Perry Syndrome
Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia OMIM:168605
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168600
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign... ORPHA:99027
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Thrombocytopenia, Tremor, Sideroblastic anemia OMIM:222300
Tay-Sachs Disease
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Increased serum beta-hex... ORPHA:845
Hyperlysinemia
Failure to thrive, Hyperlysinemia, Clumsiness, Dysmetria, Hyperammonemia, Craniosynostosis, Opist... ORPHA:2203
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase ORPHA:397744
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Splenomegaly... OMIM:619534
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity OMIM:618527
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Tremor, Cystathi... OMIM:277400
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Hyperlysinemia, Recurrent hand flapping, Hyperammonemia, Increased ser... ORPHA:3008
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil ... OMIM:214500
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Ataxia, Neutropenia,... ORPHA:167
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Splenomegaly, Tremor, Decreased serum zinc OMIM:201100
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Extrapyramidal muscular rigidity, Oculogyric crisis, ... ORPHA:94093
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Respiratory paralysis, Periodic... ORPHA:79102
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Elevated circulating creatine kinase concentration, Hyperkinetic movements, Chorea, Athet... OMIM:615356
Tropical Endomyocardial Fibrosis
Cachexia, Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Gaucher Disease
Ataxia, Elevated circulating C-reactive protein concentration, Increased bone mineral density, He... ORPHA:355
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Failure to thrive, Hypertonia, Elevated hemoglobin A1c, Babinski sign, Tremor, Spasticity OMIM:616539
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Axial dystonia, Upper motor neuron dysfunction, Clumsiness, Splenomegaly, Inte... ORPHA:646
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor OMIM:146500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Sp... ORPHA:667
Pmm2-Cdg
Failure to thrive, Ataxia, Osteopenia, Osteoporosis, Impaired neutrophil chemotaxis, Abnormality ... ORPHA:79318
Supranuclear Palsy, Progressive, 1
Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Limb d... OMIM:601104
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Slurred speech OMIM:619323

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 Tbc1d2b

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 Tbc1d2b.

No publications found that use IMPC mice or data for Tbc1d2b.

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Tbc1d2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter