613217.8

Country

Saudi Arabia

HPO Terms

Intractable diarrhea; Villous atrophy
Back to search Result
Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002354.3:c.412C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613217.2Saudi ArabiaIntractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancyMaleNoYes
613217.3Saudi ArabiaIntractable diarrhea; Failure to thriveFemale
613217.4Saudi ArabiaIntractable diarrhea; Failure to thriveMale
613217.5Saudi ArabiaIntractable diarrhea; Villous atrophyMaleNoYes
613217.6Saudi ArabiaIntractable diarrhea; Villous atrophyFemaleYesYes
613217.7Saudi ArabiaIntractable diarrhea; Villous atrophyMaleNoYes
613217.10Saudi ArabiaIntractable diarrheaMaleNo
613217.11Saudi ArabiaIntractable diarrheaFemaleNoSecond mutation in the gene in this patient is unknown
613217.12Saudi ArabiaIntractable diarrheaFemaleNo
613217.13Saudi ArabiaIntractable diarrheaMaleNo
613217.14Saudi ArabiaIntractable diarrheaFemaleYes
613217.19Saudi ArabiaIntractable diarrhea; ArthritisFemaleYes
613217.20Saudi ArabiaIntractable diarrheaMaleYes
613217.21Saudi ArabiaIntractable diarrhea; Arthritis; Esophageal atresiaMaleYes
613217.22Saudi ArabiaIntractable diarrheaFemaleYes
Back to search Result
© CAGS 2024. All rights reserved.