Term Name: | syndromic X-linked intellectual disability Lubs type |
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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 ) |