Zellweger-like syndrome without peroxisomal anomalies (Q101721): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / CURIE | |||
CID11:ID_697302760 | |||
| Property / CURIE: CID11:ID_697302760 / rank | |||
Normal rank | |||
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 |
||
| 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. |
Statements
CID11:ID_697302760
0 references
