syndromic X-linked intellectual disability Turner type

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

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.

Signs and symptoms

• Intellectual disability
• Motor delay
• Delayed speech and language development
• Delayed ability to walk
• Thin upper lip vermilion
• Deeply set eye
• Broad nasal tip
• Generalized hypotonia
• Strabismus
• High forehead

Also known as: Brooks-Wisniewski-Brown syndrome; MRXST; X-linked intellectual disability, Brooks type; mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type