DISEASES

Disease-gene associations mined from literature

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 ...