617462.1.1

Egypt

Intellectual disability, severe; Seizure; Cerebral atrophy; Leukodystrophy; Macular degeneration; Abnormal retinal morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015062.5:c.1825C>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
617462.1.2	Egypt	Intellectual disability, severe; Seizure; Cerebral atrophy; Leukodystrophy; Macular degeneration; Abnormal retinal morphology	Female	Yes	Yes	Relative of 617462.1.1