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Warburg Sjo Fledelius syndrome MeSH Supplementary Concept Data 2024


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
Warburg Sjo Fledelius syndrome Preferred
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