615219.6.1

Country

Palestine

HPO Terms

Hydrocephalus; Single umbilical artery; Polyhydramnios; Atrial septal defect; Gray matter heterotopia; Central diaphragmatic hernia; Macular hypoplasia; Frontal bossing; Facial asymmetry; Bulbous nose

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001378778.1:c.4469del	2		Hydrocephalus, congenital, 2, with or without brain or eye anomalies

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References

Shaheen et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615219.6.2	Palestine		Male			Father of 615219.6.1
615219.6.3	Palestine		Female			Moither of 615219.6.1