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| Term | syndromic X-linked intellectual disability Lubs type | ID (Ontology) | DOID:0060799 (Human Disease) |
| 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. | ||
| Also Known As | "Lubs X-linked mental retardation syndrome" ; "MECP2 duplication syndrome" ; "mental retardation, X-linked, syndromic, Lubs type" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__syndromic X-linked intellectual disability__ syndromic intellectual disability | |__syndromic X-linked intellectual disability__| chromosomal disease | |__chromosomal duplication syndrome____________| syndromic X-linked intellectual disability Lubs type 4 rec. |
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| Is a |
syndromic X-linked intellectual disability chromosomal duplication syndrome |
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External Crossreferences & Linkouts
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GARD:9781 MESH:C537723 MIM:300260 NCI:C126747 ORDO:85281 SNOMEDCT_US_2023_03_01:702816000 UMLS_CUI:C1846058 |
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