3-phosphoserine phosphatase deficiency (Q85487): Difference between revisions
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A deficiência de 3-fosfoserina fosfatase é uma forma extremamente rara de síndrome de deficiência de serina caracterizada clinicamente por microcefalia congênita e retardo psicomotor grave no único caso relatado até o momento, que foi associado à síndrome de Williams. | |||||||||||||||
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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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| Property / Canonical URI: https://id.who.int/icd/entity/391283591 / rank | |||||||||||||||
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CID11:ID_391283591 | |||||||||||||||
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dki-india-ID_391283591 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest 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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dki-india-ID_391283591
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Concluído
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13 August 2026
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