Component of conserved oligomeric Golgi complex 4 deficiency (Q103666)
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Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2078860328 |
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| English | Component of conserved oligomeric Golgi complex 4 deficiency |
Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome characterised clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. |
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CID11:ID_2078860328
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dki-india-ID_2078860328
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