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Human Disease

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
Ontology
Human Disease   ( DOID:0060811 )
Relationships
is a type of
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Genes Involved
Zebrafish Models