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DOID:0060811 - syndromic X-linked intellectual disability Turner type
Disease Ontology 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.
Synonyms: Brooks-Wisniewski-Brown syndrome, mental retardation and macrocephaly syndrome, mental retardation, X-linked syndromic, Turner type, MRXST, X-linked intellectual disability, Brooks type
Xenbase Genes
:
huwe1
| MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type |
| MIM:300706 - MOVED TO 309590 |
| MIM:309590 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee