600143.2

Saudi Arabia

Microcephaly; Motor delay; Developmental regression; Periventricular leukomalacia; Ichthyosis; Seizure; Spasticity

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018941.4:c.209G>A	2		Ceroid Lipofuscinosis, Neuronal, 8