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intellectual disability-strabismus syndrome

Disease Summary
Associated Targets (1)
Tdark

1


Explore Associated Targets
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT36 is often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination.
Mondo Term and Equivalent IDs
MONDO:0014119:  intellectual disability-strabismus syndrome
Orphanet:363528: 
UMLS:C3809039: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found