Number of the records: 1  

Zellwegerov syndróm

  1. Record numberd015211
    Date06.06.2025
    TypeM
    Topical termZellwegerov syndróm
    Other termEnglish (Pseudonym) Cerebrohepatorenal Syndrome
    English (Pseudonym) Zellweger-Like Syndrome
    Slovak (Pseudonym) syndróm cerebrohepatorenálny
    Slovak (Pseudonym) PBD, ZSS
    Slovak (Pseudonym) syndróm podobný Zellwegerovmu syndrómu
    Slovak (Pseudonym) poruchy biogenézy peroxizómov, spektrum Zellwegerovho syndrómu
    Slovak (Pseudonym) Zellwegerova choroba
    Slovak (Pseudonym) poruchy Zellwegerovho spektra
    Slovak (Pseudonym) Zellwegerovské spektrum
    Slovak (Pseudonym) poruchy Zellwegerovského spektra
    Slovak (Pseudonym) porucha peroxizomálna abiogenetická
    UDCC06.552.970C10.228.140.163.100.968C12.050.351.968.419.978C12.200.777.419.978C12.950.419.978C16.131.077.970C16.320.565.189.968C16.320.565.663.970C18.452.132.100.968C18.452.648.189.968C18.452.648.663.970
    NoteAn autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
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Number of the records: 1  

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