613454.2

Saudi Arabia

Protruding ear; Prominent nasal tip; Wide mouth; Recurrent hand flapping; Titubation; Gastroesophageal reflux; Hypertonia; Ankle clonus

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005249.5:c.689G>T	1		Rett Syndrome, Congenital Variant