Amish, Mennonite, and Hutterite
Genetic Disorder Database

Zellweger syndrome

Disorder
OMIM #: #614872  (Click to access OMIM database)
Disorder: Zellweger syndrome 
Also known as: PEROXISOME BIOGENESIS DISORDER 7A 
Clinical
Phenotype: profound hypotonia, seizures, inability to feed, characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, chondrodysplasia punctata are present, no significant development 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: PEX26
Base Change: C>T, at nucleotide 292
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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