615824.1.1

Country

Lebanon

HPO Terms

Intrauterine growth retardation; Metabolic acidosis; Seizure; Global developmental delay; Delayed social development; Delayed fine motor development; Bilateral sensorineural hearing impairment; Synophrys; Epicanthus; Upslanted palpebral fissure; Depressed nasal bridge; Postaxial polydactyly; Autistic behavior; Aggressive behavior; Hyperactivity; Unilateral cryptorchidism

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032340.4:c.214-3C>G	2		Mitochondrial Complex III Deficiency, Nuclear Type 7

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Remarks

The patient's father had a similar facial appearance and a history of a cleft palate.

References

Tucker et al, 2013