DO_rare_slim has material basis in has phenotype disease has basis in congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation Iq DOID:0080568 GARD:12397 MIM:612379 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. ORDO:324737 congenital disorder of glycosylation 1q disease_ontology autosomal recessive inheritance Visual impairment Optic nerve hypoplasia Iris coloboma Nystagmus Abnormality of prenatal development or birth Ataxia Hypotonia Cerebellar atrophy Aplasia/Hypoplasia of the cerebellar vermis Congenital ichthyosiform erythroderma