Disease #05818 (Gastroschisis (Gastroschisis), OMIM:230750)

Official abbreviation Gastroschisis
Name Gastroschisis
OMIM ID 230750
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene PLOD1
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Individuals

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00318109 Patient III:2 PubMed: Salinas-Torres et al., 2020 The proband and her half-sister were born with gastroschisis. Both individuals and their shared mother carried the variant. This variant was described in the paper as ENST00000376369.3:c.1612-8C>T.The technique used was whole exome sequencing. - - Mexico Mexican - 0 - - Gastroschisis - PLOD1 PLOD1 1 1 Raymond Dalgleish
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