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Gene: Kcnj16 MGI:1314842

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Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 16
Synonyms:
6430410F18Rik,  Kir5.1

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 structure Kcnj16tm1Sjtu HOM Early adult 1.94×10-08
abnormal bone mineralization Kcnj16tm1Sjtu HOM Early adult 2.70×10-07
abnormal response to tactile stimuli Kcnj16tm1Sjtu HOM Early adult 2.68×10-06
decreased bone mineral density Kcnj16tm1Sjtu HOM Early adult 1.42×10-07
decreased lean body mass Kcnj16tm1Sjtu HOM Early adult 2.94×10-07
tremors Kcnj16tm1Sjtu HOM Early adult 1.98×10-08
abnormal startle reflex Kcnj16tm1Sjtu HOM Early adult 2.49×10-05
increased bone mineral content Kcnj16tm1Sjtu HOM Early adult 8.99×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnj16 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 Kcnj16 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypokalemic Tubulopathy And Deafness
Ataxia OMIM:619406

The table below shows human diseases predicted to be associated to Kcnj16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture OMIM:611105
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density, Spastic paraplegia OMIM:250500
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Clonus, Failure to thrive, Flexion contracture, Myoclonus OMIM:618201
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Phenylketonuria
Osteopenia, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Tremor, Dystonia, Myoclonus OMIM:619651
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus OMIM:615768
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Tremor, Ataxia, Limb dystonia OMIM:620270
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Oculomotor apraxia, Spasticity, Tremor, Osteoporosis, Gait ataxia, Dysmetria ORPHA:529665
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Lower limb spasticity, Spasticity, Exaggerated startle response, Clonus, Failure to t... OMIM:616881
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Spasticity, Tremor, Flexion contracture OMIM:609260
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture OMIM:617106
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Elbow flexion contracture OMIM:619470
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Babinski sign, Exaggerated startle response, Spastic paraplegia, Flexion contracture, Ankle clonus OMIM:609541
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor... OMIM:617145
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Ddost-Cdg
Osteopenia, Failure to thrive, Tremor, Oromotor apraxia ORPHA:300536
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Behr Syndrome
Babinski sign, Adductor longus contractures, Truncal ataxia, Tremor, Progressive spasticity, Freq... OMIM:210000
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Babinski sign, Reduced bone mineral density, Tremor ORPHA:83629
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis, Failure to thrive, Ataxia, Myoclonus OMIM:560000
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:213200
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:619028
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma... ORPHA:70594
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism OMIM:618049
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysmetria OMIM:617916
Sialidosis Type 2
Tremor, Ataxia, Flexion contracture, Osteoporosis ORPHA:87876
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Wrist flexion contrac... OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo... ORPHA:79263
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Dysmetria OMIM:610185
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Amish Nemaline Myopathy
Shoulder flexion contracture, Hip contracture, Tremor ORPHA:98902
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Ataxia, Dysmetria, Gait ataxia OMIM:618387
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Hypertonia, Chorea, Spasticity, Exaggerated startle response, Failure to thrive, Joint contractur... OMIM:617864
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Dystonia, Increased susceptibility to fractures OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Shoulder flexion contracture, Hip contracture, Tremor, Decreased hip abduction OMIM:605355
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Multiple joint contractures, Exaggerated startle re... ORPHA:320406
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss ORPHA:178509
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Tremor, Dysmetria, Gait ataxia OMIM:618090
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Tremor, Babinski sign ORPHA:477673
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Progressive spastic quad... ORPHA:309246
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trabeculae, Recurrent fr... OMIM:600081
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm... ORPHA:254881
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria OMIM:614831
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Ataxia, Joint hypermobility, Dysmetria OMIM:614867
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Limited knee extension, Ataxia ORPHA:36387
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia OMIM:616719
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Ankle clonus, Abnormal pyramidal sign OMIM:617435
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Incoordination, Tremor, Frequent falls, Paraparesis, Achilles tendon contracture, ... OMIM:302800
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami... OMIM:272750
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Hyperkinetic movements, Tremor, Upper limb spasticity, Overweight ORPHA:457240
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent... ORPHA:93160
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dy... OMIM:608643
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614618
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Dyst... ORPHA:765
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign OMIM:616795
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Failure to thrive, Sparse bon... OMIM:241530
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Progressive cerebellar ataxia, Truncal ataxia, Poor fine motor coordin... ORPHA:137898
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Tremor, Gait ataxia, Intention tremor, Ataxia, Flexion contracture, My... OMIM:616505
Cystathioninuria
Tremor ORPHA:212
Hyperekplexia 1
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus OMIM:149400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets ORPHA:157215
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... ORPHA:98773
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive OMIM:611590
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Tay-Sachs Disease
Limited elbow extension, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Trem... ORPHA:845
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Limb hypertonia OMIM:617162
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Elbow flexion contracture, Exaggerated startle response, Clonus, Hip contracture, Fle... OMIM:617301
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Failure to thrive, Dystonia, Joint con... ORPHA:35708
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami... ORPHA:96
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Joint stiffness, Tremor ORPHA:209335
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Tremor, Joint hypermobility, Truncal obesity, Small for gesta... OMIM:300957
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Dysmetria OMIM:607694
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Spinocerebellar Ataxia Type 27
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor ORPHA:98764
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Tremor, Obesity, Parkinsonism ORPHA:3077
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Joint stiffness, Failure to thrive, Camptodactyly of finger, Osteomalac... ORPHA:2176
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Failure to thrive, Head titubation,... OMIM:312080
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia OMIM:208920
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trabeculae, Recurrent fr... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trabeculae, Recurrent fr... OMIM:277440
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Titubation, Dysmetria OMIM:619405
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteoporosis, Joint stiffness, Osteomalacia, Joint hypermobility ORPHA:1901
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Tremor, Dystonia, Joint contracture, Choreoathetosis OMIM:617664
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Cystinosis
Rickets, Failure to thrive, Abnormal pyramidal sign ORPHA:213
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Apraxia, Tremor, Focal dystonia, Dys... ORPHA:52368
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Sandhoff Disease, Infantile Form
Spasticity, Exaggerated startle response, Myoclonus ORPHA:309155
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Failure to thrive, Sparse bone trabeculae, Osteomalacia... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Perry Syndrome
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss OMIM:168605
Plaa-Associated Neurodevelopmental Disorder
Limb hypertonia, Abnormality of extrapyramidal motor function, Hyperextensibility of the finger j... ORPHA:521426
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Pseudobulbar paralysis OMIM:616586
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteoporosis, Opisthotonus, Flexion contracture, Osteomalacia, Arthrogryposi... ORPHA:2671
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Babinski sign, Hypertonia, Abnormality of extrapyramidal motor function, Exaggerated startle resp... OMIM:617527
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Tetanus
Hypertonia, Stiff neck, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles ORPHA:3299
Fibrous Dysplasia Of Bone
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Osteolysis, Osteoma... ORPHA:249
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Tremor ORPHA:397744
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Babinski sign, Hypertonia, Spasticity, Tremor, Upper motor neuron dysfunction, Dysd... ORPHA:99027
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism OMIM:168600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Pathologic fracture, Abnormality of extrapyramidal motor function, Spasticity, Tremor... OMIM:612199
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Aceruloplasminemia
Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo... ORPHA:48818
Sandhoff Disease
Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated startle response, Ataxia OMIM:268800
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive ORPHA:79303
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis, Failure to thrive, Ataxia, Weight loss OMIM:212750
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Developmental And Epileptic Encephalopathy 49
Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Myoclonus, Spastic tetra... OMIM:617281
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Tremor, Hypophosphatemic rickets ORPHA:263455
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Osteopenia ORPHA:2088
12Q14 Microdeletion Syndrome
Failure to thrive, Tremor, Osteopoikilosis ORPHA:94063
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Osteoporosis, Weight loss ORPHA:309031
Asparagine Synthetase Deficiency
Hypertonia, Limb hypertonia, Tremor, Exaggerated startle response, Clonus, Failure to thrive, Spa... OMIM:615574
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia OMIM:615530
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Wilson Disease
Abnormality of extrapyramidal motor function, Parkinsonism with favorable response to dopaminergi... OMIM:277900
Kallmann Syndrome
Reduced bone mineral density, Paraplegia, Tremor, Obesity, Ataxia, Recurrent fractures ORPHA:478
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Monostotic fibrous dysplasia, Osteomalacia, ... ORPHA:562
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Paralysis, Failure to thrive, Osteomalacia, Increased susc... ORPHA:18
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Combined Oxidative Phosphorylation Deficiency 58
Appendicular spasticity, Exaggerated startle response, Gait ataxia, Ataxia, Myoclonus OMIM:620451
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Head tremor, Gait ataxia, Dystonia, Progressive ... OMIM:606002
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Osteomalacia OMIM:227810
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Myoclonus, Exaggerated startle response, Dystonia, Ankle clonus OMIM:620423
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Exaggerated startle response OMIM:253800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Gm1 Gangliosidosis Type 1
Decerebrate rigidity, Spasticity, Exaggerated startle response ORPHA:79255
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Failure to thrive, Slender build, Joint hyperm... OMIM:613658
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism OMIM:146500
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... OMIM:234200
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive ORPHA:411629
Occipital Horn Syndrome
Rickets, Osteopenia, Synostosis of joints, Osteoporosis, Osteomalacia, Joint hypermobility, Osteo... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Hypertonia, Spasticity, Abnormally ossified vertebrae, Osteoporosis, Rigidit... ORPHA:2636
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Weight loss, Increased susceptibility to fractures ORPHA:3337
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Exaggerated startle response, Osteoporosis, Involuntary movements, Dystonia, Myoclonu... ORPHA:438213
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Tremor, Craniosynostosis, Recurrent fractures ORPHA:667
Lowe Oculocerebrorenal Syndrome
Rickets, Pathologic fracture, Failure to thrive, Camptodactyly of finger, Osteomalacia, Joint hyp... OMIM:309000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Hypertonia, Spasticity, Exaggerated startle response OMIM:618367
Oculocerebrorenal Syndrome Of Lowe
Arthritis, Clonus, Joint stiffness, Failure to thrive, Osteomalacia, Joint hypermobility, Recurre... ORPHA:534
Supranuclear Palsy, Progressive, 1
Bradykinesia, Retrocollis, Axial dystonia, Tremor, Limb dystonia, Rigidity, Parkinsonism, Eyelid ... OMIM:601104
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Failure to thrive, Weight loss, Failure to thrive in infancy OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Arthritis, Osteomyelitis, Weight loss OMIM:619381
Hypomagnesemia 3, Renal
Rickets, Failure to thrive OMIM:248250
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, O... ORPHA:51608
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Joint hypermobility, Exaggerated startle response OMIM:619522
Hypokalemic Tubulopathy And Deafness
Ataxia OMIM:619406

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 Kcnj16

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 Kcnj16.

No publications found that use IMPC mice or data for Kcnj16.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kcnj16tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnj16tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnj16tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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