Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency (Q94048): Difference between revisions
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15 August 2026
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Latest revision as of 09:09, 16 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl. The syndrome is caused by a mutation in the gene (localised to the q23.3 region of chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase (DPAGT1).
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| English | Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl. The syndrome is caused by a mutation in the gene (localised to the q23.3 region of chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase (DPAGT1). |
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CID11:ID_409877897
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dki-india-ID_409877897
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Concluído
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15 August 2026
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