OBO ID: DOID:0060819
Term Name: syndromic X-linked intellectual disability Chudley-Schwartz type Search Ontology:
Synonyms:
  • mental retardation, X-linked, syndromic, Chudley-Schwartz type
  • MRXSCS
  • X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. https://www.ncbi.nlm.nih.gov/pubmed/10398239
References:
Ontology: Human Disease   ( DOID:0060819 )
OTHER syndromic X-linked intellectual disability Chudley-Schwartz type PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None