Table 1

A summary of the clinical manifestations in patients homozygous for the SH3TC2 p.Arg1109X mutation

Patient ID	Age at walking (m)	Age at diagn (y)	Curr age (y)	Muscle weakness and atrophy*			Foot deformity*	Scoliosis*	Sensory loss*			Cranial nerve involve	Degree of disability*
Patient ID	Age at walking (m)	Age at diagn (y)	Curr age (y)	Lower limbs distal	Lower limbs prox	Upper limbs distal	Foot deformity*	Scoliosis*	Touch	Vibr	Proprio	Cranial nerve involve	Degree of disability*
*The assessments were obtained at recent examinations and refer to the current age of the patients.
Curr, current; diagn, diagnosis; ID, identification number; involve, involvement; m, months; mod, moderate; Proprio, proprioception; prox, proximal; U/K, unknown; Vibr, vibration; y, years.
A IV-10	13	7	20	+++	++	+	+++	Mod	Yes	Yes	No	No	Unstable (“clumsy”) gait
B IV-4	13	6	28	+++	+	+	+	No	Yes	Yes	Yes	No	“Clumsy” gait
B IV-7	14	6	23	+++	+	+	(+/−)	No				No	“Clumsy” gait
C III-6	14	37	47	+++	+++	+	++	No	Yes	Yes	Yes	Yes	Stands with support
C III-9	12	26	43	+++	+++	+	(+/−)	No	Yes	Yes	Yes	Yes	Walks with support
D IV-2	13	16	25	++	+	+	+	No	Yes	Mild	Mild	Yes	Ambulant
E III-14	Never walked	Infancy	Died at 22	U/K	U/K	U/K	U/K	U/K	U/K	U/K	U/K	U/K	Never walked, wheel chair bound
E III-17	30	Infancy	14	+++	+++	+++	+++	Severe	Yes	Yes	Yes	No	Never walked, wheel chair bound
E III-18		7	8	+	+	+	+	No	Yes	Yes	Yes	No	Walks with support; severe ataxia
Sp 3–3	26	4	9	+++	+	++	++	Yes	Yes	Yes	Yes	No	“Clumsy” gait, ataxia
P14–3	12	29	41	+++	+	++	Pes cavus, hammer toes	No	Yes	Yes	Yes	Yes	“Clumsy” gait
P14–4	12	37	46	+++	+	++		No	Yes	Yes	Yes	Yes	“Clumsy” gait