All individuals with variants in gene PIGS

3 entries on 1 page. Showing entries 1 - 3.
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00174372 - - monozygotic twin brothers share a phenotype of hypotonia, severe global developmental delay, seizures, visual impairment, CNS atrophy on radiological studies, and hand anomalies (including brachydactyly and clinodactyly). M no - white - 0 - - ? - 2 2 Philippe Campeau
00174373 - - have an affected sibling M no - - - 0 - 50 mg pyridoxine hydrochloride by gastrostomy tube ? - 1 2 Philippe Campeau
00174374 - - Affected fetus with multiple joint contractures, consistent with fetal akinesia ? no - - - 0 - - ? - 2 2 Philippe Campeau
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