FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation Ik ID (Ontology) DOID:0080563 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
Also Known As "congenital disorder of glycosylation 1k"
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 Genes
 congenital disorder of glycosylation Ik       1
 for disease ribbon | congenital disorder of glycosylation Ik       1
 model of | congenital disorder of glycosylation Ik       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 Ik  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 1k" EXACT
Secondary IDs
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GARD:9838
MIM:608540
ORDO:79327