249000.6.2

Country

Palestine

HPO Terms

Neonatal death; Renal cyst; Occipital encephalocele; Polydactyly; Ulnar bowing
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Sex

Unknown

Family History

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_017777.4:c.1048C>T 2

Remarks

Sibling of 249000.6.1

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
249000.6.1 Palestine Neonatal death; Renal cyst; Occipital encephalocele Unknown Yes
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