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| Malformations of cortical development v2.92 | VPS50 | Ivone Leong Entity copied from Intellectual disability v3.1322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.92 | VPS50 |
Ivone Leong gene: VPS50 was added gene: VPS50 was added to Malformations of cortical development. Sources: Literature,Expert Review Amber watchlist tags were added to gene: VPS50. Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS50 were set to 34037727 Phenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum Penetrance for gene: VPS50 were set to Complete |
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