OBO ID: DOID:0060799
Term Name: syndromic X-linked intellectual disability Lubs type Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0060799)
Relationships
is a type of:
OTHER syndromic X-linked intellectual disability Lubs type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MECP2 Mental retardation, X-linked syndromic, Lubs type 300260
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None