613217.4

Country

Iraq

HPO Terms

Intractable diarrhea; Failure to thrive

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002354.3:c.589C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613217.2IraqIntractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancyMaleNoYes
613217.3IraqIntractable diarrhea; Failure to thriveFemale
613217.5IraqIntractable diarrhea; Villous atrophyMaleNoYes
613217.6IraqIntractable diarrhea; Villous atrophyFemaleYesYes
613217.7IraqIntractable diarrhea; Villous atrophyMaleNoYes
613217.8IraqIntractable diarrhea; Villous atrophyMaleYes
613217.10IraqIntractable diarrheaMaleNo
613217.11IraqIntractable diarrheaFemaleNoSecond mutation in the gene in this patient is unknown
613217.12IraqIntractable diarrheaFemaleNo
613217.13IraqIntractable diarrheaMaleNo
613217.14IraqIntractable diarrheaFemaleYes
613217.19IraqIntractable diarrhea; ArthritisFemaleYes
613217.20IraqIntractable diarrheaMaleYes
613217.21IraqIntractable diarrhea; Arthritis; Esophageal atresiaMaleYes
613217.22IraqIntractable diarrheaFemaleYes
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