275210.1.1

Country

United Arab Emirates

HPO Terms

Death in infancy; Wide anterior fontanel; Micrognathia; Thin skin; Fragile skin; Flexion contracture; Narrow mouth; Thin ribs
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005857.5:c.627+1G>C2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
275210.1.2United Arab EmiratesDeath in infancy; Wide anterior fontanel; Thin skin; Fragile skin; Flexion contracture; Narrow mouth; CryptorchidismMaleYesYesFourth cousin of 275210.1.1
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