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X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Disease Summary
Associated Targets ()

Mondo Description An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
Mondo Term and Equivalent IDs
MONDO:0010332:  X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
MESH:C564510: 
Orphanet:85280: 
UMLS:C1845450: