Table 1.

Core features of the syndromic phenotype produced by the S331 SPTLC1 mutation.

Reported clinical features as part of the S331–SPTLC1 syndrome	Huehne et al., 2008 [13] (p.S331F)	Rotthier et al., 2009 [5] (p.S331F)	This study (p.S331Y)
Diffuse muscle hypotrophy	Yes	Yes	Yes
Growth retardation	nm	Yes	Yes
Motor and sensory neuropathy	Yes	Yes	Yes
Foot ulcers, amputations and/or burns	Yes	Yes	Yes
Juvenile cataracts	Yes	Yes	Yes
Mental retardation	nm	Yes	No
Joint hypermobility	nm	Yes	Yes
Vocal cord paralysis	nm	Yes	No
Tremor	nm	nm	Yes
Fasciculations	nm	nm	Yes
Other ocular manifestations	Yes	nm	No
Respiratory problems	nm	Yes	Yes

Features present in at least two patients are highlighted in bold (nm: not mentioned).