Phosphomannomutase 2 deficiency (Q94026): Difference between revisions
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O distúrbio congênito de glicosilação tipo 1A (CDG-Ia) é a forma mais frequente de síndrome CDG e é caracterizado por manifestações clínicas altamente variáveis que podem incluir problemas de alimentação, vômitos e diarreia com deficiência de crescimento em bebês e encefalopatia grave com hipotonia axial , movimento anormal dos olhos, retardo psicomotor acentuado, neuropatia periférica, hipoplasia cerebelar, episódios semelhantes a derrame e retinite pigmentosa no final da infância, infância ou idade adulta. | |||
| description / en | description / en | ||
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome and is characterised by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. | |||
Revision as of 09:08, 16 August 2026
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome and is characterised by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_491821390 |
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| English | Phosphomannomutase 2 deficiency |
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome and is characterised by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. |
