| 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 | |
| Alternateids |
DOID:0060829 |
| Subsets |
DO_rare_slim |
| 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 |