MeSH Browser

MeSH Supplementary: Lubs X-linked mental retardation syndrome
Unique ID: C537723
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537723
Entry Term(s): MECP2 Duplication Syndrome; MRXSL; Mental Retardation, X-Linked, With Recurrent Respiratory Infections; Mental retardation, X-linked, Lubs type; Trisomy Xq28; XLMR syndrome, Lubs type
Heading Mapped to: *Mental Retardation, X-Linked
Frequency: 81
Note: An X-linked recessive neurodevelopmental disorder characterized by severe to profound intellectual disability, infantile HYPOTONIA, mild dysmorphic features, poor speech development, AUTISM - like features, SEIZURES, progressive SPASTICITY, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as ANXIETY. Caused by copy number variations in the MECP2 gene. OMIM: 300260
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Lubs X-linked mental retardation syndrome MeSH Supplementary Concept Data 2024