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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://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15689435, https://www.ncbi.nlm.nih.gov/pubmed/20425814
Xrefs

GARD:9781

MESH:C537723

NCI:C126747

OMIM:300260

ORDO:85281

SNOMEDCT_US_2023_03_01:702816000

UMLS_CUI:C1846058

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

is_a chromosomal duplication syndrome

is_a syndromic X-linked intellectual disability

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