Zellweger-like syndrome without peroxisomal anomalies (Q101721): Difference between revisions
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A síndrome do tipo Zellweger com função peroxissomal normal é uma síndrome rara caracterizada por dismorfismo facial, hipotonia profunda, déficit intelectual e anomalias metabólicas. As manifestações clínicas se assemelham àquelas encontradas na síndrome de Zellweger, mas nenhum defeito peroxossômico é encontrado nesses pacientes. | |||
| description / en | description / en | ||
Zellweger-like syndrome with normal peroxisomal function is a rare syndrome characterised by facial dysmorphism, profound hypotonia, intellectual deficit, and metabolic anomalies. Clinical manifestations resemble those found in Zellweger syndrome, but no peroxysomal defect is found in these patients. | |||
Revision as of 18:33, 16 August 2026
Zellweger-like syndrome with normal peroxisomal function is a rare syndrome characterised by facial dysmorphism, profound hypotonia, intellectual deficit, and metabolic anomalies. Clinical manifestations resemble those found in Zellweger syndrome, but no peroxysomal defect is found in these patients.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_697302760 |
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| English | Zellweger-like syndrome without peroxisomal anomalies |
Zellweger-like syndrome with normal peroxisomal function is a rare syndrome characterised by facial dysmorphism, profound hypotonia, intellectual deficit, and metabolic anomalies. Clinical manifestations resemble those found in Zellweger syndrome, but no peroxysomal defect is found in these patients. |
