218340.15.1

Jordan

Global developmental delay; Intellectual disability; Delayed speech and language development; Brain atrophy; Macrocephaly; Hypotonia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_138425.4:c.33G>C	2		Temtamy Syndrome

Parents had five spontaneous abortions. Similarly affected cousin was also born to consanguineous parents.