600143.1

Lebanon

Seizure; Ataxia; Hypotonia; Global developmental delay; Encephalopathy; Developmental regression; Brain atrophy; Neurodevelopmental delay

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018941.3:c.610C>T	2		Ceroid Lipofuscinosis, Neuronal, 8