242860.1

Lebanon

Severe combined immunodeficiency; Lymphopenia; Hypertelorism; Epicanthus; Micrognathia; Low-set ears

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006892.4:c.2477G>A	2		Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

The patient had a similarly affected older brother who died at 4 months of age from respiratory failure due to pneumonia