117550.3

Saudi Arabia

Abnormal facial shape; Hypoplasia of the corpus callosum; Periventricular leukomalacia

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022455.5:c.2058T>A	1	NA	Sotos Syndrome 1

De novo mutation

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
117550.2	Saudi Arabia	Global developmental delay; Failure to thrive	Male	No	No	de novo mutation
117550.4	Saudi Arabia	Global developmental delay; Abnormal facial shape; Overgrowth	Male		No	De novo mutation