Warburg Sjo Fledelius syndrome [Supplementary Concept]

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

Date introduced: August 25, 2010

MeSH Unique ID: C536681

Heading Mapped to:

• Abnormalities, Multiple
• Cataract/congenital
• Cornea/abnormalities
• Hypogonadism
• Intellectual Disability
• Microcephaly
• Optic Atrophy

Entry Terms:

• Micro Syndrome
• Warburg micro syndrome
• WARBM1 Warburg micro syndrome 1