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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, mental retardation, X-linked, syndromic, Lubs type, mental retardation, X-linked, with recurrent respiratory infections, MRXSL, X-linked intellectual disability-hypotonia-recurrent Infections syndrome
Xenbase Genes
:
mecp2
| MONDO:0010283 - syndromic X-linked intellectual disability Lubs type |
| MIM:300260 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal duplication syndrome (is_a),
syndromic X-linked intellectual disability (is_a)