218340.G.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Absent speech; Seizure; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Spasticity; Delayed gross motor development; Microphthalmia; Coloboma; Abnormal facial shape

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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_138425.4:c.1A>G	30		Temtamy Syndrome

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Remarks

Group of 15 Saudi Arabian patients. (12 out of the 15 were from consanguineous families)

References

Alrakaf et al. 2018;
Patel et al. 2018