3-phosphoserine phosphatase deficiency (Q85487): Difference between revisions
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Revision as of 10:50, 15 August 2026
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome .
| Language | Label | Description | Also known as |
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| default for all languages | ID_391283591 |
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| English | 3-phosphoserine phosphatase deficiency |
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome . |
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CID11:ID_391283591
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