L1 syndrome (Q101717): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_1457804873 |
||
| 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. |
