syndromic X-linked intellectual disability Shrimpton type (DOID:0060813)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic 9; MRXS9
Alt IDs: OMIM:300709, ICD10CM:Q87.8, ORDO:85324
Definition: A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.