Table 1.

Clinical features in individuals with disorders associated with CHRM3

	Family 1 (Weber et al 2011)1						F2 (Pomper et al 2011)19 a	F3 (This report)
	Male	Male	Male	Male	Male	Male	Male	Male	Female	Female
Status	Deceased	Alive	Alive	Alive	Alive	Alive	Alive	Deceased	Alive	Alive
Abdominal wall distension	+	−	−	+	−	−	−	−	+	−
Incomplete bladder emptying after voiding	u/k	+	+	+	+	+	+	u/k	+	+
Other urinary tract phenotype	Renal failure urosepsis	−	−	−	−	Bladder diverticulae	Urinary stones, urosepsis	Urosepsis
Pupillary restriction to light	+	+	+	+	+	+	+	+	+	+
Dry mouth	+	+	+	+	+	+	−	u/k	−	−
Other phenotype	−	−	−	−	−	−	Lean habitus	−	Constipation, mild ID	Constipation, mild ID

Abbreviations: NR, not reported; u/k, unknown, +, feature present, −, feature absent.

^aNo CHRM3 variants identified.