Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease

Table 1 . Clinical findings in the NPD patients.

Patient no./sex	Age at diagnosis, years	Current age, years	Heptosplenomegaly	Developmental delay^a	Clinically based NPD type
1/M	Infancy	2	Massive	+	A
2/M	Infancy	3	Massive	+/−	A/B
3/F	2	6	Moderate	−	B
4/M	9	12	Mild	−	B
5/F	3	25	Moderate	−	B
6/M	3	8	Moderate	−	B

^aDevelopmental delay was assessed by standard clinical evaluation and determined to be normal (+), abnormal (−), or intermediate (+/−).

ISSN: 1528-3658