General Information of Disease (ID: DISD6SHO)

Disease Name Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
Synonyms Lemspad Syndrome; leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome; LEMSPAD; LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISD6SHO: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
Disease Identifiers
MONDO ID
MONDO_0030036
UMLS CUI
C5394371
OMIM ID
618878
MedGen ID
1719764

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EIF2AK1 TTRUJBV Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EIF2AK1 OTN0NXX2 Limited Unknown [1]
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References

1 Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism. Case Rep Genet. 2015;2015:212436. doi: 10.1155/2015/212436. Epub 2015 Mar 29.