618323.1

Country

Lebanon

HPO Terms

Cryptorchidism; Ophthalmoplegia; Hypotonia; Global developmental delay; Motor delay; Scoliosis; Myopathy; EMG: myopathic abnormalities; Abnormal circulating creatine kinase concentration

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014231.5:c.97C>T	2		Myasthenic Syndrome, Congenital, 25, Presynaptic

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References

Nair et al. 2018