Zellweger-like Syndrome Without Peroxisomal Anomalies
Description
Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
Clinical Features
Top most frequent phenotypes and symptoms related to Zellweger-like Syndrome Without Peroxisomal Anomalies
- Global developmental delay
- Short stature
- Microcephaly
- Failure to thrive
- Muscular hypotonia
- High palate
- Epicanthus
- Hepatomegaly
- Wide nasal bridge
- Intrauterine growth retardation
And another 12 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Zellweger-like Syndrome Without Peroxisomal Anomalies Is also known as ahn-lerman-sagie syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
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