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syndromic X-linked intellectual disability Claes-Jensen type

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0010355:  syndromic X-linked intellectual disability Claes-Jensen type
MESH:C564494: 
Orphanet:85279: 
SCTID:719161008: 
UMLS:C1845243: 
UMLS:C4304915: