. Author manuscript; available in PMC: 2021 Nov 1.

Published in final edited form as: Hum Mutat. 2020 Aug 30;41(11):1918–1930. doi: 10.1002/humu.24092

Table 1.

Clinical features of RPS20-mutated study patients

Clinical feature	BMF92	NCI-62–1
Current age/Race/Ethnicity	8 y/ White/ Hispanic	18 y/ White/ Hispanic
Age at presentation	First month of life	First month of life
Mean corpuscular volume	Normal range	Not available^†
Erythrocyte adenosine deaminase	10.5 mol/min/gm/hgb (normal range 0.42–3.5)	Not available^†
Hemoglobin F %	2.9 (normal range 0–3)	Not available^†
Congenital anomalies	None	None
Stature	Normal (43 %tile)	Normal
Gastrointestinal disease	Eosinophilic colitis	Colitis, NOS
Family history for anemia or colitis	Negative	Negative

^†

Red blood cell transfusion-dependent from birth

Hgb, hemoglobin; NOS, not otherwise specified