The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

BMC Medical Genetics

Table 1 Clinical features of patients carrying the p.Phe174Ser variant

	Our report	Cardoso et al., 2005 [11]
	c.[521 T > C]; [724C > T]	c.[IVS8-1G > C]; [521 T > C]
IQ	69	Normal
Behaviour	Normal behaviour	Behavioural problems
OFC	Microcephaly	Microcephaly
Brain	Normal	Normal
Mouth	Normal	Normal
Acral	Bilateral 2–3 toe syndactily	2-3 toe syndactily
Eye	Ptosis, epicanthal folds	Ptosis, epicanthal folds
Heart	Patent foramen ovale	Intraventricular communication
Kidney	Bifid pelvis	Normal
Liver	Normal	Information not available
Lung	Normal	Normal
Bowel	Normal	Feeding disorder
Genitalia	Normal	Information not available

ISSN: 1471-2350