612284.1

Country

Saudi Arabia

HPO Terms

Hydrocephalus; Occipital encephalocele; Polycystic kidney dysplasia; Stillbirth

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001378615.1:c.3084del	2	NA	Meckel Syndrome, Type 6

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Remarks

Subject had an older stillbirth brother and a brother that died at 2 years of age with occipital encephalocele and polycystic kidneys. Family history includes several affected deceased paternal cousins

References

Maddirevula et al. 2018;
Shaheen et al. 2017;
Shaheen et al. 2015