607361.4.3

Palestine

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Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153704.5:c.1065+1delG	1

Mother of patient 607361.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
607361.4.1	Palestine	Renal cyst; Occipital encephalocele; Cleft palate; Cryptorchidism	Male		Yes	The proband had an affected sibling who had not underwent molecular testing; the affected sibling exhibited Dandy-Walker malformation and cystic kidneys.
607361.4.2	Palestine		Male			Father of patient 607361.4.1

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