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syndromic X-linked intellectual disability Lubs type
Summary
- Synonym
-
- Lubs X-linked mental retardation syndrome
- MECP2 duplication syndrome
- MRXSL
- X-linked intellectual disability-hypotonia-recurrent Infections syndrome
- mental retardation, X-linked, syndromic, Lubs type
- mental retardation, X-linked, with recurrent respiratory infections
- Definition
- A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
- Super Class
- chromosomal duplication syndrome syndromic X-linked intellectual disability
Related Genes
