607131.1.7

Country

Oman

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198525.3:c.3179A>G1

Remarks

Mother of 607131.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
607131.1.1OmanMacrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; LymphedemaMaleYesYes
607131.1.2OmanMacrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasia; LymphedemaFemaleYesYesSibling of 607131.1.1
607131.1.3OmanMacrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasiaMaleYesYesSibling of 607131.1.1
607131.1.4OmanMacrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasiaMaleYesYesSibling of 607131.1.1
607131.1.5OmanMacrocephaly; Frontal bossing; Hypertelorism; Malar flattening; Pectus excavatum; Clinodactyly; Epiphyseal dysplasiaMaleYesYesFirst cousin of 607131.1.1
607131.1.6OmanMaleFather of 607131.1.1
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