613217.10

Country

Algeria

HPO Terms

Intractable diarrhea
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002354.3:c.359A>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613217.2AlgeriaIntractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancyMaleNoYes
613217.3AlgeriaIntractable diarrhea; Failure to thriveFemale
613217.4AlgeriaIntractable diarrhea; Failure to thriveMale
613217.5AlgeriaIntractable diarrhea; Villous atrophyMaleNoYes
613217.6AlgeriaIntractable diarrhea; Villous atrophyFemaleYesYes
613217.7AlgeriaIntractable diarrhea; Villous atrophyMaleNoYes
613217.8AlgeriaIntractable diarrhea; Villous atrophyMaleYes
613217.11AlgeriaIntractable diarrheaFemaleNoSecond mutation in the gene in this patient is unknown
613217.12AlgeriaIntractable diarrheaFemaleNo
613217.13AlgeriaIntractable diarrheaMaleNo
613217.14AlgeriaIntractable diarrheaFemaleYes
613217.19AlgeriaIntractable diarrhea; ArthritisFemaleYes
613217.20AlgeriaIntractable diarrheaMaleYes
613217.21AlgeriaIntractable diarrhea; Arthritis; Esophageal atresiaMaleYes
613217.22AlgeriaIntractable diarrheaFemaleYes
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