Term Name: syndromic X-linked intellectual disability Lubs type
Synonyms: Lubs X-linked mental retardation syndrome, MECP2 duplication syndrome, mental retardation, X-linked, syndromic, Lubs type, mental retardation, X-linked, with recurrent respiratory infections, MRXSL, X-linked intellectual disability-hypotonia-recurrent Infections syndrome
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.
Ontology: Human Disease [DOID:0060799]   ( DOID:0060799 )

Relationships
is a type of: chromosomal duplication syndrome syndromic X-linked intellectual disability