DISEASES

Disease-gene associations mined from literature

Human genes for syndromic X-linked intellectual disability Turner type

Syndromic X-linked intellectual disability Turner type [DOID:0060811]

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.

Synonyms:  syndromic X-linked intellectual disability Turner type,  DOID:0060811,  syndromic Xlinked intellectual disability Turner type,  syndromic X-linked intellectual disability Turner types,  Brooks-Wisniewski-Brown syndrome ...