608393.2

Saudi Arabia

Hyperreflexia; Hypertonia; Micrognathia; Highly arched eyebrow; Thin upper lip vermilion; Sloping forehead

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018451.5:c.133C>T	2		Microcephaly 6, Primary, Autosomal Recessive