L1 syndrome (Q101717): Difference between revisions
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A síndrome L1 é um transtorno congênito de desenvolvimento ligado ao X leve a grave, caracterizado por hidrocefalia de vários graus de gravidade, déficit intelectual, espasticidade das pernas e polegares aduzidos. A síndrome representa um espectro de transtornos, incluindo: hidrocefalia ligada ao X com estenose do aqueduto de Sylvius, síndrome de MASA, paraplegia espástica hereditária complicada ligada ao X tipo 1 e agenesia de corpo caloso complicada ligada ao X. | |||||||||||||||
| description / en | description / en | ||||||||||||||
L1 syndrome is a mild to severe congenital X-linked developmental disorder characterised by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1457804873 / rank | |||||||||||||||
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CID11:ID_1457804873 | |||||||||||||||
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dki-india-ID_1457804873 | |||||||||||||||
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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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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 18:33, 16 August 2026
L1 syndrome is a mild to severe congenital X-linked developmental disorder characterised by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1457804873 |
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| English | L1 syndrome |
L1 syndrome is a mild to severe congenital X-linked developmental disorder characterised by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Statements
CID11:ID_1457804873
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dki-india-ID_1457804873
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Concluído
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15 August 2026
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