Human genes for syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Lubs type [DOID:0060799]
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.
Synonyms: syndromic X-linked intellectual disability Lubs type, DOID:0060799, syndromic Xlinked intellectual disability Lubs type, syndromic X-linked intellectual disability Lubs types, Lubs X-linked mental retardation syndrome ...