613217.3

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Country

Palestine

HPO Terms

Intractable diarrhea; Failure to thrive
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Sex

Female

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002354.3:c.1A>C1
NM_002354.3:c.38_62dup1
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613217.2PalestineIntractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancyMaleNoYes
613217.4PalestineIntractable diarrhea; Failure to thriveMale
613217.5PalestineIntractable diarrhea; Villous atrophyMaleNoYes
613217.6PalestineIntractable diarrhea; Villous atrophyFemaleYesYes
613217.7PalestineIntractable diarrhea; Villous atrophyMaleNoYes
613217.8PalestineIntractable diarrhea; Villous atrophyMaleYes
613217.10PalestineIntractable diarrheaMaleNo
613217.11PalestineIntractable diarrheaFemaleNoSecond mutation in the gene in this patient is unknown
613217.12PalestineIntractable diarrheaFemaleNo
613217.13PalestineIntractable diarrheaMaleNo
613217.14PalestineIntractable diarrheaFemaleYes
613217.19PalestineIntractable diarrhea; ArthritisFemaleYes
613217.20PalestineIntractable diarrheaMaleYes
613217.21PalestineIntractable diarrhea; Arthritis; Esophageal atresiaMaleYes
613217.22PalestineIntractable diarrheaFemaleYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.