syndromic X-linked intellectual disability Turner type (DOID:0060811)
Alliance: disease page
Synonyms: Brooks-Wisniewski-Brown syndrome; mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST; X-linked intellectual disability, Brooks type
Alt IDs: OMIM:309590, ICD10CM:Q87.8, ORDO:3056, ORDO:85328
Definition: A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.