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intellectual disability, autosomal recessive 52
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.
Uniprot Description A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616887
UMLS:C4225168
MONDO:0014815
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