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Summary Literature (0)
DOID:0060799 - syndromic X-linked intellectual disability Lubs type


Disease Ontology 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.

Synonyms: Lubs X-linked mental retardation syndrome, MECP2 duplication syndrome, MRXSL, X-linked intellectual disability-hypotonia-recurrent Infections syndrome, mental retardation, X-linked, syndromic, Lubs type, mental retardation, X-linked, with recurrent respiratory infections

In OMIM:
OMIM:300260 - LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

In Mondo Disease Ontology:
MONDO:0010283 - syndromic X-linked intellectual disability Lubs type

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mecp2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal duplication syndrome (is_a), syndromic X-linked intellectual disability (is_a)