615794.1.1

Kuwait

Intellectual disability, severe; Seizure; Hypotonia; Short stature

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001079673.2:c.1186G>A	2

Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615794.1.2	Kuwait	Intellectual disability, severe; Seizure; Hypotonia; Short stature	Male	Yes	Yes	Relative of 615794.1.1