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X-linked intellectual disability, Stevenson type

Disease Summary
Associated Targets ()

Mondo Description An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
Mondo Term and Equivalent IDs
MONDO:0019422:  X-linked intellectual disability, Stevenson type
Orphanet:85325: 
SCTID:718909001: 
UMLS:CN206178: