Warburg micro syndrome 1

A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadi

A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.

Signs and symptoms

• Perisylvian polymicrogyria
• Cerebellar hypoplasia
• Enlarged sylvian cistern
• Short stature
• Microcornea
• Agenesis of corpus callosum
• Osteoporosis
• Failure to thrive
• Developmental cataract
• Facial hypertrichosis

Also known as: Micro Syndrome 1; WARBM1