84859.1.1

Syria

Intellectual disability, severe; Seizure; Hypotonia; Abnormal heart morphology; Cerebral atrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001365716.1:c.761A>G	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
84859.1.2	Syria	Intellectual disability, severe; Seizure; Hypotonia; Abnormal heart morphology; Cerebral atrophy	Female	Yes	Yes	Relative of 84859.1.1
84859.1.3	Syria	Intellectual disability, severe; Seizure; Hypotonia; Abnormal heart morphology; Cerebral atrophy	Female	Yes	Yes	Relative of 84859.1.1