117550.4

Saudi Arabia

Global developmental delay; Abnormal facial shape; Overgrowth

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022455.5:c.1893del	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
117550.3	Saudi Arabia	Abnormal facial shape; Hypoplasia of the corpus callosum; Periventricular leukomalacia	Female		Yes	De novo mutation