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LEMSPAD
MCID: LKN031
MIFTS: 17
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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:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy progressive disorder de novo mutation normal school with accommodations one patient has been reported (last curated may 2020) Classifications: |
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UniProtKB/Swiss-Prot: 73 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). Affiliated tissues include brain, and related phenotypes are dysarthria and hypotonia
More information from OMIM:
618878
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Human phenotypes related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:30 (show all 9)
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Organs/tissues related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:
MalaCards :
Brain
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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:5
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome.
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