232300.4

Country

Lebanon

HPO Terms

Microcephaly; Hypodontia; Delayed speech and language development; Intellectual disability; Global developmental delay; Motor delay; Abnormal facial shape

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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_000152.4:c.266G>A	2		Glycogen Storage Disease II

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Remarks

Patient has affected siblings

References

Nair et al. 2018