/Warburg micro syndrome

Warburg micro syndrome

Rare Disease

MONDO:0016649

Also Known As

WARBMWarburg micro syndromeWarburg-Sjo-Fledelius syndromemicro syndromemicrocephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalismmicrocephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism

Definition

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.