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syndromic X-linked intellectual disability Lubs type (DOID:0060799)
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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
Alt IDs: OMIM:300260, ICD10CM:Q87.8, MESH:C537723, ORDO:85281, UMLS_CUI:C1846058
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory