syndromic X-linked intellectual disability Turner type

Term ID

DOID:0060811

Synonyms

• Brooks-Wisniewski-Brown syndrome
• mental retardation and macrocephaly syndrome
• mental retardation, X-linked syndromic, Turner type
• MRXST

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. (2)

References

• ICD10CM:Q87.8
• MIM:309590
• ORDO:3056
• ORDO:85328

Ontology

Human Disease   ( DOID:0060811 )