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,

Echinobase Genes :


OMIM:

MIM:300260 - lubs x-linked mental retardation syndrome; mrxsl

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee