| Metadata | |
|---|---|
| ID | DOID:0060799 |
| Name | syndromic X-linked intellectual disability Lubs type |
| Definition | A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/20425814, https://www.ncbi.nlm.nih.gov/pubmed/15689435, https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:702816000 |
| Alternateids |
DOID:0080713 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Lubs X-linked mental retardation syndrome [EXACT] MECP2 duplication syndrome [EXACT] mental retardation, X-linked, syndromic, Lubs type [EXACT] mental retardation, X-linked, with recurrent respiratory infections [EXACT] MRXSL [EXACT] X-linked intellectual disability-hypotonia-recurrent Infections syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some chromosome and has material basis in some duplication |