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syndromic X-linked intellectual disability Turner type
Summary
- Synonym
-
- Brooks-Wisniewski-Brown syndrome
- MRXST
- X-linked intellectual disability, Brooks type
- mental retardation and macrocephaly syndrome
- mental retardation, X-linked syndromic, 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060811
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z6Z7 | E3 ubiquitin-protein ligase HUWE1 |
