Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males more severely
|
| gptkbp:alsoKnownAs |
MECP2 duplication
|
| gptkbp:causedBy |
duplication of MECP2 gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2005
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
MECP2 duplication syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:involvedIn |
gptkb:MECP2
IRAK1 |
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:OMIM |
300260
|
| gptkbp:parentOrganization |
MECP2 Duplication Syndrome Family Support Group
|
| gptkbp:relatedTo |
gptkb:Rett_syndrome
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures recurrent infections motor delay speech impairment autistic features progressive spasticity |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:MECP2
gptkb:Rett_syndrome gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|