Autosomal recessive lower motor neuron disease with childhood onset (Q103442): Difference between revisions
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Foi relatado que uma única família consanguínea do Mali desenvolveu características graves de atrofia muscular espinal distal na primeira infância. A insuficiência respiratória foi documentada em uma proporção de pacientes. Uma mutação homozigótica no gene PLEKHG5 (1p36.31) foi identificada. | |||||||||||||||
| description / en | description / en | ||||||||||||||
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1852084767 / rank | |||||||||||||||
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CID11:ID_1852084767 | |||||||||||||||
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dki-india-ID_1852084767 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:12, 17 August 2026
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1852084767 |
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| English | Autosomal recessive lower motor neuron disease with childhood onset |
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified. |
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CID11:ID_1852084767
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dki-india-ID_1852084767
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Concluído
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16 August 2026
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