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progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems.
Mondo Term and Equivalent IDs
MONDO:0014559:  progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Orphanet:457212: 
UMLS:C4225395: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found