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severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Disease Summary
Associated Targets (2)
Tdark

2


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. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements.
Mondo Term and Equivalent IDs
MONDO:0014238:  severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Orphanet:391307: 
UMLS:C3809853: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found