242860.2

Saudi Arabia

Recurrent lower respiratory tract infections; Pleural effusion; Failure to thrive; Hypertelorism; Micrognathia; Death in childhood

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006892.4:c.2506G>A	2		Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1