syndromic X-linked intellectual disability Lubs type
Information
- Disease name
- syndromic X-linked intellectual disability Lubs type
- Disease ID
- DOID:0060799
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15689435, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425814]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060309
- Cross Reference ID (Disease Ontology)
- GARD:9781
- Cross Reference ID (Disease Ontology)
- MESH:C537723
- Cross Reference ID (Disease Ontology)
- MIM:300260
- Cross Reference ID (Disease Ontology)
- NCI:C126747
- Cross Reference ID (Disease Ontology)
- ORDO:85281
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:702816000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1846058
- Exact Synonym (Disease Ontology)
- Lubs X-linked mental retardation syndrome
- Exact Synonym (Disease Ontology)
- MECP2 duplication syndrome
- Exact Synonym (Disease Ontology)
- mental retardation, X-linked, syndromic, Lubs type
- Exact Synonym (Disease Ontology)
- mental retardation, X-linked, with recurrent respiratory infections
- Exact Synonym (Disease Ontology)
- MRXSL
- Exact Synonym (Disease Ontology)
- X-linked intellectual disability-hypotonia-recurrent Infections syndrome