607361.4.1

Country

Palestine

HPO Terms

Renal cyst; Occipital encephalocele; Cleft palate; Cryptorchidism

Back to search Result

Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153704.5:c.1065+1delG	2		Meckel Syndrome, Type 3

Download Table

Remarks

The proband had an affected sibling who had not underwent molecular testing; the affected sibling exhibited Dandy-Walker malformation and cystic kidneys.

References

Khaddour et al. 2007

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
607361.4.2	Palestine		Male			Father of patient 607361.4.1
607361.4.3	Palestine		Female			Mother of patient 607361.4.1