615219.3.2

Country

Saudi Arabia

HPO Terms

Severe hydrocephalus; Seizure; Visual impairment; Intellectual disability, mild

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Sex

Male

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

Maternal uncle of 615219.3.1. Subject had 4 additional affected deceased siblings that were not tested for the variant (2 stillbirths and two died in infancy).

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615219.3.1	Saudi Arabia	Ventriculomegaly; Lissencephaly; Colpocephaly; Dysplastic corpus callosum; Severe hydrocephalus; Chorioretinal coloboma; Atrial septal defect; Seizure	Female	Yes	Yes	Proband
615219.3.3	Saudi Arabia	Severe hydrocephalus; Intellectual disability, borderline; Macrocephaly; Esotropia	Female	Yes	Yes	Maternal aunt of 615219.3.1. and sibling of 615219.3.2. Subject had 4 additional affected deceased siblings that were not tested for the variant (2 stillbirths and two died in infancy).