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Disease Ontology Browser
syndromic X-linked intellectual disability Turner type (DOID:0060811)
Synonyms: mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST
Alt IDs: OMIM:300706, ICD10CM:Q87.8, ORDO:85328
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory