617614.1.1

Syria

Intellectual disability, profound; Seizure; Microcephaly; Short stature; Limb hypertonia; Bruxism

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016390.4:c.1058C>T	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
617614.1.2	Syria	Intellectual disability, profound; Seizure; Microcephaly; Short stature; Limb hypertonia; Bruxism	Male	Yes	Yes	Relative of 617614.1.1