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Syndromic X-linked intellectual disability Shashi type
rareX-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.
- Identifiers
- MONDO:0010277 OMIM:300238Orphanet:85286
- Causal genes
- RBMX
- Part of
- X-linked syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive · intellectual disability X-linked Shashi type · intellectual disability X-linked syndromic 11 · intellectual disability, X-linked, syndromic 11 · intellectual disability, X-linked, syndromic 11, Shashi type
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