616632.3.1

Oman

Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability; Bronchiectasis

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005219.5:c.2769del	2		Seizures, Cortical Blindness, and Microcephaly Syndrome

Patient had an older sister who "died of unknown causes but was not known to be similarly affected."

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616632.3.2	Oman	Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability	Female	Yes	Yes	Sibling of 616632.3.1
616632.3.3	Oman	Seizure; Microcephaly; Visual impairment; Optic atrophy	Male	Yes	Yes	Sibling of 616632.3.1