611054.1.2

Syria

Intellectual disability, severe; Hypotonia; Spasticity; Resting tremor; Abnormal thorax morphology; Seizure; Cerebral atrophy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003626.5:c.1070A>G	2

Relative of 611054.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611054.1.1	Syria	Intellectual disability, severe; Hypotonia; Spasticity; Resting tremor; Abnormal thorax morphology; Seizure; Cerebral atrophy	Male	Yes	Yes	Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.