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

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

  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
  1. IQ intellectual quotient, OFC occipitofrontal circumference