congenital disorder of glycosylation Iq

A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital catar

A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.

Signs and symptoms

• Hypotonia
• Motor delay
• Nystagmus
• Elevated circulating hepatic transaminase concentration
• Intellectual disability
• Visual loss
• Global developmental delay
• Reduced antithrombin III activity
• Coloboma
• Dry skin

Also known as: congenital disorder of glycosylation 1q