FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital disorder of glycosylation Iq ID (Ontology) DOID:0080568 (Human Disease)
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.
Also Known As "congenital disorder of glycosylation 1q"
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 Genes
 congenital disorder of glycosylation Iq       1
 for disease ribbon | congenital disorder of glycosylation Iq       1
 model of | congenital disorder of glycosylation Iq       1
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autosomal genetic disease
 |__autosomal recessive disease__________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Iq  1 rec.
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Is a congenital disorder of glycosylation type I
autosomal recessive disease
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Synonyms
  • "congenital disorder of glycosylation 1q" EXACT
Secondary IDs
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GARD:12397
MIM:612379
ORDO:324737