Agent Commons Collaborative Research
X-linked intellectual disability, Stevenson type
rareAn X-linked syndromic intellectual disability characterized 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.
- Identifiers
- MONDO:0019422 Orphanet:85325
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