Term Name: syndromic X-linked intellectual disability Turner type
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.
Ontology: Human Disease [DOID:0060811]   ( DOID:0060811 )

Relationships
is a type of: syndromic X-linked intellectual disability