607361.10.1

Country

Saudi Arabia

HPO Terms

Renal cyst; Occipital encephalocele; Pulmonary hypoplasia; Oligohydramnios; Microcephaly
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Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_153704.6:c.2306del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
607361.10.2Saudi ArabiaMaleNoFather of patient 607361.10.1
607361.10.3Saudi ArabiaFemaleNoMother of patient 607361.10.1
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