249000.6.1

Palestine

Neonatal death; Renal cyst; Occipital encephalocele

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Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017777.4:c.1048C>T	2		Meckel Syndrome, Type 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
249000.6.2	Palestine	Neonatal death; Renal cyst; Occipital encephalocele; Polydactyly; Ulnar bowing	Unknown	Yes		Sibling of 249000.6.1

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