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syndromic X-linked intellectual disability Shashi type
? TBD
syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has material basis in mutation in the RBMX gene on chromosome Xq26
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Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
X-linked intellectual disability
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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