Term Name: | syndromic X-linked intellectual disability Turner type |
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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 ) |