FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation Iu ID (Ontology) DOID:0080571 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
Also Known As "congenital disorder of glycosylation 1u"
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 Genes
 congenital disorder of glycosylation Iu       1
 for disease ribbon | congenital disorder of glycosylation Iu       1
 model of | congenital disorder of glycosylation Iu       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 Iu  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 1u" EXACT
Secondary IDs
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GARD:12416
MIM:615042
ORDO:329178