246900.5

Country

United Arab Emirates

HPO Terms

Vomiting; Seizure; Hypoglycemia; Global developmental delay; Oculomotor apraxia; Sensorineural hearing impairment; Lactic acidosis; Elevated hepatic transaminase; Hyperammonemia

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

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

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References

Al-Jasmi et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
246900.3	United Arab Emirates	Respiratory distress; Left ventricular hypertrophy; Inguinal hernia; Lactic acidosis; Elevated hepatic transaminase	Male		Yes
246900.4	United Arab Emirates	Lactic acidosis; Nystagmus; Sensorineural hearing impairment; Hyperalaninemia	Male		Yes