| Symbol
| PBD11
|
| Location
| 1q22
|
| Name
|
peroxisome biogenesis disorder, Zellweger spectrum |
| Other name(s)
|
PBD complementation group 14 or J |
| Corresponding gene
|
PEX19
|
| Other symbol(s)
| ZS, ZWS
|
| Main clinical features
|
the clinical continuum of Zellweger spectrum patients extends from Zellweger syndrome (ZS) as the prototype and the most severe entity of this group to neonatal adrenoleukodystrophy (NALD) as an intermediate form and infantile Refsum (IRD) disease asthe least severe variant |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| metabolism/peroxisomal |
| Type
| disease
|