Pharos: intellectual disability, autosomal recessive 7 (1 associated targets)

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 TUSC3 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.

Mondo Term and Equivalent IDs

MONDO:0012615: intellectual disability, autosomal recessive 7

MESH:C567016:

OMIM:611093: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7

UMLS:C1970197: