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Gene: Xylb MGI:2142985

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Gene Summary

Name:
xylulokinase homolog (H. influenzae)
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 bone mineralization Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.16×10-07
abnormal response to new environment Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 1.96×10-06
abnormal response to tactile stimuli Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.52×10-08
increased startle reflex Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 4.63×10-06
decreased lactate dehydrogenase level Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.88×10-05
abnormal bone structure Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.18×10-05
increased bone mineral density Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.65×10-09
decreased prepulse inhibition Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.76×10-05
increased heart weight Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.35×10-06
increased lean body mass Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.06×10-10
decreased circulating alkaline phosphatase level Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.03×10-10
abnormal tail movements Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 2.07×10-06
increased bone mineral content Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.54×10-10
abnormal startle reflex Xylbtm1a(EUCOMM)Hmgu HOM Early adult 6.70×10-07
tremors Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 9.11×10-06
increased total body fat amount Xylbtm1a(EUCOMM)Hmgu HOM Early adult 7.39×10-08

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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 Xylb 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 Xylb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity OMIM:611105
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... ORPHA:309169
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma... ORPHA:79262
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density, Spastic paraplegia OMIM:250500
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increased bone d... OMIM:136300
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... ORPHA:401901
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr... ORPHA:216873
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus OMIM:159900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... OMIM:615362
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... OMIM:213600
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autoimmune Hypoparathyroidism
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce... ORPHA:36913
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritabilit... OMIM:261630
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... OMIM:606438
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... ORPHA:276435
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Saccharopinuria
Tremor, Mental deterioration, Hypercystinemia, Spastic diplegia, Gait ataxia, Hyperammonemia, Abn... ORPHA:3124
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... ORPHA:314632
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls OMIM:619647
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment OMIM:614018
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia Type 12
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity OMIM:615768
Dystonia 12
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability OMIM:128235
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... ORPHA:240103
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy OMIM:620270
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... OMIM:617284
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Hypermanganesemia With Dystonia 2
Limb dystonia, Generalized dystonia, Limb joint contracture, Parkinsonism, Elevated circulating c... OMIM:617013
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Irritability, Hy... OMIM:616881
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level OMIM:612126
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Flexion contracture, Hypertonia, Mental deterioration, Spasticity OMIM:609260
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... ORPHA:454887
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... ORPHA:94089
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa... ORPHA:240085
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coord... ORPHA:363400
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidi... OMIM:261640
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... OMIM:159950
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Mental deterioration,... OMIM:208920
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Failure to thrive, Craniosynostosis,... OMIM:259700
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Flexion contracture, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myoclonus, Mental ... ORPHA:2590
Schnitzler Syndrome
Splenomegaly, Arthritis, Increased bone mineral density, Hepatomegaly ORPHA:37748
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia OMIM:618387
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... OMIM:614307
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Obesity, Depression, Memory impairment, Hyperostosis frontalis inte... ORPHA:77296
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, U... ORPHA:87876
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis OMIM:611490
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... OMIM:617145
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Limb fasciculations, Elevated circulating creatine kinase concentration, Fatiguable weakn... ORPHA:90117
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,... ORPHA:79263
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... ORPHA:3240
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Elevate... OMIM:612953
Trisomy X
Tremor, Depression, Joint hyperflexibility, Attention deficit hyperactivity disorder, Cognitive i... ORPHA:3375
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I... OMIM:233910
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia OMIM:615010
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Chorea, Spastic tetraplegia, Spasticity, Irri... OMIM:617864
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Ddost-Cdg
Osteopenia, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive ORPHA:300536
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato... ORPHA:355
Myopathy With Extrapyramidal Signs
Joint laxity, Hepatomegaly, Extremely elevated creatine kinase, Ventricular septal defect, Clonus... OMIM:615673
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spastic tetrapl... OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... ORPHA:70594
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Emotional lability OMIM:616269
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Splenomegaly, Flexion cont... ORPHA:77297
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:529665
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Clonus, Splenomegaly, Cranial hyperostosis, Spastic... OMIM:259720
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... ORPHA:1782
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func... ORPHA:178509
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis ORPHA:329284
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... OMIM:617916
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair... OMIM:137440
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Involuntary movements, Confusion, Obesity, Reduced bo... ORPHA:79443
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Confusion, Obesity, Depression, Irritability, Hyperph... ORPHA:79444
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp... OMIM:616795
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Classic Phenylketonuria
Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity... ORPHA:79254
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... OMIM:619738
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Babinski sign, Flexion contracture, Spastic paraplegia, Ankle clonus OMIM:609541
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em... ORPHA:542310
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets OMIM:619232
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Parkinsonism, Tremor, Abnormal fear-induced behavior, Obes... ORPHA:3077
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Atrial septal defec... OMIM:617744
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis... OMIM:618476
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... ORPHA:199351
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration OMIM:607748
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive, Osteopetrosis OMIM:615085
Mohr-Tranebjaerg Syndrome
Tremor, Increased susceptibility to fractures, Dystonia, Mental deterioration, Spasticity OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ... OMIM:128100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, T... OMIM:614298
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... OMIM:210000
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Joint stiffness ORPHA:209335
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... OMIM:619405
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... ORPHA:329478
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Limitation of joint mobility, Hypertonia, Abnormal ... ORPHA:1192
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:313200
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Osteoporosis, Rickets, Myoclonus, Failure to thrive OMIM:560000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Dementia, Cognitive impairment OMIM:603472
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive OMIM:211600
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Atrial septal defec... OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Tre... OMIM:619424
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,... OMIM:312080
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... OMIM:264700
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Babinski sign, Clumsiness, Poor fine... ORPHA:137898
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Progressive Supranuclear Palsy
Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Abnormal synaptic transmission, Dement... ORPHA:683
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Cranial hyperostosis, Depression, Hyperkinetic movements, Upper limb spasticity ORPHA:457240
Spinocerebellar Ataxia Type 27
Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Truncal ataxia, Memory impairment ORPHA:98764
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Abnormal myocardi... ORPHA:77259
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... ORPHA:765
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Peroxisome Biogenesis Disorder 5B
Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculom... OMIM:614867
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum... OMIM:277900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu... ORPHA:320406
12Q14 Microdeletion Syndrome
Tremor, Osteopoikilosis, Failure to thrive ORPHA:94063
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... ORPHA:77261
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Ir... ORPHA:289157
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... ORPHA:33364
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... OMIM:268800
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... ORPHA:289494
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... OMIM:608799
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas... ORPHA:101
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Involuntary... ORPHA:48818
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... OMIM:613280
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... ORPHA:352649
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls OMIM:184850
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... OMIM:149400
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia OMIM:272800
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia OMIM:614618
Stiff Person Spectrum Disorder
Rigidity, Emotional lability, Exaggerated startle response ORPHA:3198
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia OMIM:614619
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende... ORPHA:902
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Desmosterolosis
Increased bone mineral density, Rigidity, Splenomegaly, Anomalous pulmonary venous return, Hypert... ORPHA:35107
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Small for gestational age, Tremor, Depression, Truncal obesity, Hyperkinetic moveme... OMIM:300957
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Rickets, Hepatosplenomegaly OMIM:611590
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Hand tremor, Dys... OMIM:302800
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Myoclonus, Attentio... ORPHA:442835
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det... OMIM:300894
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... ORPHA:2780
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Amish Nemaline Myopathy
Tremor, Hip contracture, Shoulder flexion contracture ORPHA:98902
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Mental deterioration, Focal... ORPHA:52368
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Tr... ORPHA:1578
Sneddon Syndrome
Bicuspid aortic valve, Tremor, Atrophic scars, Mental deterioration, Hemiplegia OMIM:182410
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Hip contracture, Decreased hip abduction, Shoulder flexion contracture OMIM:605355
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Elbow f... OMIM:617301
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure ... OMIM:607765
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Spastic paraplegia, Babinski sign, Reduced bone mineral density ORPHA:83629
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus... OMIM:616505
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Pericardial effusion, Weight loss,... ORPHA:2905
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Hepatomegaly, Osteopetrosis, Hepatosplenomegaly OMIM:612840
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br... OMIM:618877
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly, Myoclonus, Spasticity ORPHA:309155
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Flexion contracture, Dementia, Decreased body weight OMIM:278760
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Weight loss, D... OMIM:168605
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipa... OMIM:105210
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas... ORPHA:240071
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Dysmetria, Clumsi... ORPHA:228360
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Arthritis, Vocal cord paralysis, Mildly elevated creatine kinase ORPHA:397744
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat... ORPHA:79095
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, To... OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Cho... OMIM:600740
Tetanus
Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, H... ORPHA:3299
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Limb ataxia, Dysmetria, Depre... OMIM:617675
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal c... ORPHA:263455
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosp... OMIM:227810
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Osteopetrosis OMIM:618541
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal heart valve morphology, ... ORPHA:90652
Cystinosis
Rickets, Abnormal pyramidal sign, Hypokalemia, Hypophosphatemia, Failure to thrive ORPHA:213
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Contractures of t... OMIM:617527
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Generalized joint laxity, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:502423
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Abnormal pericardium morphology, Osteolysi... ORPHA:35687
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:168600
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile aci... ORPHA:79303
Celiac Disease, Susceptibility To, 1
Ataxia, Osteoporosis, Rickets, Depression, Weight loss, Hypocalcemia, Enamel hypoplasia, Failure ... OMIM:212750
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemia OMIM:616026
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Tremor, Head titubation, Flexion contracture, Abnorma... ORPHA:99027
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Hypertonia, Fail... OMIM:615574
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Tremor,... ORPHA:667
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Periodic hypokalem... OMIM:259730
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... ORPHA:2828
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Failure to thrive, Ataxia, Elevated circulating creatine kinase concentration, Tr... ORPHA:254892
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity OMIM:176500
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rigidity, Contractures of ... ORPHA:521426
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... OMIM:201100
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive ORPHA:2088
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... ORPHA:904
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Dementia, Oculomotor apraxia ORPHA:240094
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Mental deterioration, Increase... OMIM:612199
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Ataxia, Tremor, Pericardial effusion, Abnormal subcutaneo... OMIM:212065
Hyperlysinemia
Short attention span, Neck hypertonia, Failure to thrive, Poor motor coordination, Craniosynostos... ORPHA:2203
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Pediatric-Onset Graves Disease
Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Irritability, Hyperkinetic movements, Emoti... ORPHA:525731
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Arthrogryposi... ORPHA:2671
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Weight loss, Periodic paralysis OMIM:613239
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Aortic... ORPHA:79474
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormality of extrapyramidal m... ORPHA:79255
Serotonin Syndrome
Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... ORPHA:43116
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... OMIM:617281
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Co... ORPHA:25
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Incoordination, Ataxia, Ventricular septal defect, Progressive neurologic deteri... OMIM:614947
Alexander Disease
Osteopenia, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Emo... ORPHA:58
Tick-Borne Encephalitis
Speech apraxia, Stiff neck, Incoordination, Elevated circulating C-reactive protein concentration... ORPHA:297
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... OMIM:615530
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... OMIM:610505
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... OMIM:615356
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulat... OMIM:309000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, F... ORPHA:411629
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Hypocalcemic seiz... OMIM:612301
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hypouricemia, Increased circulating guanosine concentration, Tremor, Splenomegaly, Spasti... OMIM:613179
Distal Renal Tubular Acidosis
Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... ORPHA:18
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Cardiomyopathy, Failure to thrive ORPHA:416
Alternating Hemiplegia Of Childhood
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... ORPHA:2131
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement... ORPHA:447753
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Hypertonia, Hypertrophi... OMIM:616539
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Rickets, Reduced bone miner... OMIM:613658
Aicardi-Goutières Syndrome
Multiple joint contractures, Extrapyramidal muscular rigidity, Lipoatrophy, Cardiomegaly, Tremor,... ORPHA:51
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, ... ORPHA:438213
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Tremor, Depression, Increased serum bile acid concentration, Hyperbili... ORPHA:69665
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, D... OMIM:234200
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Recurrent fractures, Osteopetro... ORPHA:2785
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... ORPHA:198
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment OMIM:146500
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Clonus, Hypoam... ORPHA:534
Sclerosteosis 1
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubul... OMIM:269500
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... ORPHA:3337
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro... OMIM:601104
Ataxia-Telangiectasia
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech, Choreoathet... OMIM:208900
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ... ORPHA:94093
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Progressive neurologic deterioration, S... OMIM:219800
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Opisthotonus, Sclerosis of skull base, Atrial septal defect, Fai... OMIM:269150
Dpagt1-Cdg
Hepatomegaly, Ataxia, Lipodystrophy, Tremor, Flexion contracture, Osteoporosis, Hypertonia, Campt... ORPHA:86309
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Hypertonia, Spasticity OMIM:618367
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... ORPHA:79102
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen OMIM:274150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Rigidity, Osteoporosis, Rickets, Hyperto... ORPHA:2636
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Splenomegaly,... OMIM:619381
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Osteomalacia, Cardiomegaly, Pericardial ef... ORPHA:51608
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Attention deficit hyperactivity disorder... OMIM:619522

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 Xylb

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 Xylb.

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

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.

MGI Allele Allele Type Produced
Xylbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Xylbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Xylbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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