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, feeding difficulties, facial dysmorphism, eye abnormalities, cortical polymicrogyria, hepatomegaly, chondrodysplasia punctata |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PEX26 |
| Base Change: | C>T, at nucleotide 292 |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Personal communication; seen at CSC. |
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