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intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth.
Mondo Term and Equivalent IDs
MONDO:0014210:  intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Orphanet:356996: 
UMLS:C3809672: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found