| Metadata | |
|---|---|
| ID | DOID:0080568 |
| Name | congenital disorder of glycosylation Iq |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/20637498 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1q [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Congenital ichthyosiform erythroderma has phenotype some Nystagmus has material basis in some autosomal recessive inheritance has phenotype some Optic nerve hypoplasia disease has basis in some Abnormality of prenatal development or birth has phenotype some Aplasia/Hypoplasia of the cerebellar vermis has phenotype some Iris coloboma has phenotype some Visual impairment has phenotype some Hypotonia has phenotype some Cerebellar atrophy has phenotype some Ataxia |