ZFIN Human Disease: syndromic X-linked intellectual disability Lubs type

OBO ID: DOID:0060799

Term Name:	syndromic X-linked intellectual disability Lubs type		Search Ontology:
Synonyms:	Lubs X-linked mental retardation syndrome MECP2 duplication syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome
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. (3)
References:	GARD:9781 MESH:C537723 NCI:C126747 OMIM:300260 ORDO:85281 SNOMEDCT_US_2023_03_01:702816000 UMLS_CUI:C1846058
Ontology:	Human Disease ( DOID:0060799 )

Relationships

is a type of:	chromosomal duplication syndrome syndromic X-linked intellectual disability chromosomal duplication syndrome syndromic X-linked intellectual disability Show first 5 Terms

OTHER syndromic X-linked intellectual disability Lubs type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MECP2	mecp2	Intellectual developmental disorder, X-linked syndromic, Lubs type	300260

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None