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FRAXE intellectual disability

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


GARD Rare
Mondo Description FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
Uniprot Description A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Mondo Term and Equivalent IDs
MONDO:0010659:  FRAXE intellectual disability
GARD:0002378: 
Orphanet:100973: 
SCTID:716709002: 
UMLS:C0751157: