X-linked intellectual disability, Stevenson type
An 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.
MONDO:0002320
congenital nervous system disorder
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MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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MONDO:0020119
X-linked syndromic intellectual disability
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