603063.1.2

Syria

Intellectual disability, severe; Seizure; Hypotonia; Limb hypertonia; Spasticity; Short stature; Microcephaly; Leukodystrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_203314.3:c.668G>A	2

Relative of 603063.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
603063.1.1	Syria	Intellectual disability, severe; Seizure; Hypotonia; Limb hypertonia; Spasticity; Short stature; Microcephaly; Leukodystrophy	Male	Yes	Yes	Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.