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TELO2-related intellectual disability-neurodevelopmental disorder

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0014848:  TELO2-related intellectual disability-neurodevelopmental disorder
EFO:0009061: 
Orphanet:488642: 
UMLS:C4310778: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found