619055.4.1

Lebanon

Intellectual disability, profound; Microcephaly; Spastic tetraplegia; Short stature; Seizure; Vegetative state

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001171155.2:c.3G>C	2		Mitochondrial Complex IV Deficiency, Nuclear Type 12

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619055.4.2	Lebanon	Cerebral atrophy; Seizure; Status epilepticus; Myocardial infarction; Death in infancy	Male	Yes	Yes	Brother of 619055.4.1
619055.4.3	Lebanon		Male	Yes		Unaffected father of 619055.4.1
619055.4.4	Lebanon		Female	Yes		Unaffected mother of 619055.4.1