MeSH Browser

MeSH Supplementary: Warburg Sjo Fledelius syndrome
Unique ID: C536681
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536681
Entry Term(s): Micro Syndrome; WARBM1 Warburg micro syndrome 1; Warburg micro syndrome
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; Cataract / *congenital; Cornea / *abnormalities; *Hypogonadism; *Intellectual Disability; *Microcephaly; *Optic Atrophy
Frequency: 37
Note: A rare hereditary disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, CORPUS CALLOSUM hypoplasia, severe intellectual disability, SPASTIC DIPLEGIA, and hypogonadism. It is caused by mutations in the RAB3GAP1 gene. OMIM: 600118
Source: Am J Dis Child. 1993;147(12):1309-12
Date of Entry: 2010/08/25
Revision Date: 2019/06/19

Concept UI: M0531142
Registry Number: 0
Terms: Warburg Sjo Fledelius syndrome Preferred Term
Term UI T740103
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Micro Syndrome
Term UI T804037
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Warburg micro syndrome
Term UI T740104
Date02/24/2009
LexicalTag NON
ThesaurusID; WARBM1 Warburg micro syndrome 1
Term UI T000961265
Date06/19/2019
LexicalTag NON
ThesaurusID NLM (2019)

Warburg Sjo Fledelius syndrome MeSH Supplementary Concept Data 2024