FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital disorder of glycosylation Ix ID (Ontology) DOID:0080573 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
Also Known As "congenital disorder of glycosylation 1x"
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 Genes
 congenital disorder of glycosylation Ix       1
 for disease ribbon | congenital disorder of glycosylation Ix       1
 model of | congenital disorder of glycosylation Ix       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 Ix  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 1x" EXACT
Secondary IDs
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MIM:615597
ORDO:370924