615471.5

Country

Saudi Arabia

HPO Terms

Global developmental delay; Delayed speech and language development; Abnormal facial shape; Plagiocephaly; Lactic acidosis; Cerebral atrophy; Leukodystrophy; Abnormal basal ganglia morphology; Thin corpus callosum; Dystonia; Failure to thrive

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001278716.2:c.1703G>C	2		Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)

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References

Gai et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615471.2	Saudi Arabia	Developmental regression; Hypotonia; Failure to thrive; Microcephaly; Lactic acidosis			Yes	Three siblings died in infancy
615471.4	Saudi Arabia	Metabolic acidosis; Failure to thrive; Global developmental delay; Almond-shaped palpebral fissure; High palate; Small forehead; Synophrys; Infra-orbital crease; Wide nasal bridge; Anteverted nares; Micrognathia; Cardiomyopathy; Hypotonia; Delayed speech and language development; Inability to walk	Female