syndromic X-linked intellectual disability Chudley-Schwartz type

Term ID

DOID:0060819

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

• OMIM:300861

Ontology

Human Disease   ( DOID:0060819 )