246900.1.1

Palestine

Death in infancy; Episodic vomiting; Encephalopathy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000108.5:c.685G>T	2		Dihydrolipoamide Dehydrogenase Deficiency

The patient had two older siblings that had died under similar circumstances

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
246900.1.2	Palestine	Episodic vomiting; Encephalopathy; Muscle weakness; Skeletal muscle atrophy; Gait ataxia; Hepatomegaly; Lactic acidosis	Male	Yes	Yes	Brother of 246900.1.1