Phosphoserine aminotransferase deficiency (Q85502): Difference between revisions
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A deficiência de fosfoserina aminotransferase é uma forma extremamente rara de síndrome de deficiência de serina caracterizada clinicamente, nos dois casos relatados até o momento, por microcefalia adquirida, retardo psicomotor, convulsões intratáveis e hipertonia. | |||||||||||||||
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Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1210469497 / rank | |||||||||||||||
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CID11:ID_1210469497 | |||||||||||||||
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dki-india-ID_1210469497 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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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 10:51, 15 August 2026
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1210469497 |
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| English | Phosphoserine aminotransferase deficiency |
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. |
Statements
CID11:ID_1210469497
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dki-india-ID_1210469497
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Concluído
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13 August 2026
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