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LEMSPAD
MCID: LKN031
MIFTS: 9
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Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome (LEMSPAD)
Categories:
Genetic diseases
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Aliases & Classifications for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...
MalaCards integrated aliases for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:
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UniProtKB/Swiss-Prot :
73
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome: A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder.
MalaCards based summary : Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome, is also known as lemspad. An important gene associated with Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome is EIF2AK1 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 1).
More information from OMIM:
618878
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Articles related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:
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Genes related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:6
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome.
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