MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
|
26410750 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
|
25265257 |
2015 |
Muscle Spasticity
|
|
0.010 |
GeneticVariation
|
BEFREE |
A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity.
|
25253658 |
2014 |
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity.
|
25253658 |
2014 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
CausalMutation
|
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
CausalMutation
|
CLINVAR |
KIF1A mutation in a patient with progressive neurodegeneration.
|
25253658 |
2014 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
CausalMutation
|
CLINVAR |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
|
0.800 |
CausalMutation
|
CLINVAR |
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
|
25265257 |
2015 |
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
PEHO syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
Profound intellectual disabilities
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
Infantile muscular hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
Peripheral axonal neuropathy
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Infantile Spasm
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
Cerebellar atrophy, progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
KIF1A mutation in a patient with progressive neurodegeneration.
|
25253658 |
2014 |
Atrophy of corpus callosum
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
Poor school performance
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Cerebellar Ataxia
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
Optic Atrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Cerebellar atrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|