613730.2.1

Country

Morocco

HPO Terms

Developmental cataract; Irritability; Intraventricular hemorrhage; Ventriculomegaly; Periventricular cysts; Anemia; Death in infancy

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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_032801.5:c.2T>G	2		Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

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Remarks

Family history includes an older sibling with cerebral haemorrhage and hydrocephalus who died at 10 days of age and a stillborn sibling with hydrocephalus and necrotic degeneration of the cerebral tissues. The patient also had a maternal uncle who died at 7 days of age of unknown causes.

References

Akawi et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613730.2.2	Morocco		Male			Father of 613730.2.1
613730.2.3	Morocco		Female			Mother of 613730.2.1