syndromic X-linked intellectual disability Lubs type

Term ID

DOID:0060799

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

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. (3)

References

• GARD:9781
• MESH:C537723
• MIM:300260
• NCI:C126747
• ORDO:85281
• SNOMEDCT_US_2023_03_01:702816000
• UMLS_CUI:C1846058

Ontology

Human Disease   ( DOID:0060799 )