| %214110 | ||||||
| CEREBROHEPATORENAL SYNDROME, VARIANT TYPES | ||||||
| Alternative titles; symbols | ||||||
| ZELLWEGER SYNDROME, VARIANT TYPES | ||||||
| Clinical Synopsis | ||||||
| TEXT | ||||||
| The complementation studies by somatic cell fusion by Brul et al. (1988) suggested the existence of several forms of Zellweger syndrome (see 214100). Shimozawa et al. (1993) indicated the existence of at least 9 groups of peroxisome-deficient disorders identified by somatic cell fusion studies. For the most part, there was no clear relationship between genotype and phenotype. The phenotype in cases of the same complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. | ||||||
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