149400.1

Country

United Arab Emirates

HPO Terms

Global developmental delay ; Generalized hypotonia ; Seizure ; Exaggerated startle response ; Long face ; Macrotia ; Tall stature ; Strabismus ; Scoliosis ; Precocious puberty

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000171.4:c.1214G>A	2		Hyperekplexia, Hereditary 1

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References

Al-Shamsi et al. 2016