X-linked intellectual disability, Pai type
X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 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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