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intellectual disability, autosomal recessive 13

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 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. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals.
Mondo Term and Equivalent IDs
MONDO:0013173:  intellectual disability, autosomal recessive 13
MESH:C567714: 
UMLS:C2750791: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found