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Metadata
ID DOID:0060811
Name syndromic X-linked intellectual disability Turner type
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.
https://www.ncbi.nlm.nih.gov/pubmed/18252223, https://www.ncbi.nlm.nih.gov/pubmed/7943042
Xrefs

ICD10CM:Q87.8

OMIM:309590

ORDO:3056

ORDO:85328

Alternateids

DOID:0060829

Synonyms

Brooks-Wisniewski-Brown syndrome [EXACT]

mental retardation and macrocephaly syndrome [EXACT]

mental retardation, X-linked syndromic, Turner type [EXACT]

MRXST [EXACT]

X-linked intellectual disability, Brooks type [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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