615219.4

Country

Saudi Arabia

HPO Terms

Ventriculomegaly; Severe hydrocephalus; Ventricular septal defect

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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_001378778.1:c.628C>T	2		Hydrocephalus, congenital, 2, with or without brain or eye anomalies

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Remarks

Subject had two older deceased siblings. The prenatal findings for the second sibling included severe hydrocephalus, cleft lip and palate, and vetricular septal defect.

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615219.5	Saudi Arabia	Ventriculomegaly; Holoprosencephaly; Macrocephaly; Stillbirth	Male	Yes	Yes	Subject had an older brother with severe hydrocephalus who died at 1 day of age.
615219.7	Saudi Arabia	Macrocephaly; Iris coloboma; Hypotonia; Intrahepatic cholestasis with episodic jaundice; Multicystic kidney dysplasia	Male	No	Yes	Patient has 2 distinct disorders- Hydrocephalus and Cholestasis