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intellectual disability, autosomal recessive 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Mondo Term and Equivalent IDs
MONDO:0009580:  intellectual disability, autosomal recessive 1
MESH:C565406: 
UMLS:C1855304: