OBO ID: DOID:0060811
Term Name: syndromic X-linked intellectual disability Turner type Search Ontology:
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:
OTHER syndromic X-linked intellectual disability Turner type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HUWE1 Intellectual developmental disorder, X-linked syndromic, Turner type 309590
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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