610329.1.2

United Arab Emirates

Unknown

Variant Name	Allele Count
NM_001211.6:c.2441G>A	1
NM_018249.6:c.412G>A	2

Sibling of 610329.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex
610329.1.1	United Arab Emirates	Global developmental delay; Hypotonia; Opisthotonus; Microcephaly; Failure to thrive; Hyperintensity of cerebral white matter on MRI; Cerebral cortical atrophy	Unknown