| http://www.w3.org/ns/prov#value | - [2] This suggests that mutation is more often spontaneous than inherited.PresentationSuspicions can be raised at mid-trimester ultrasound scanning and the condition can be diagnosed but it can also easily be missed.[9]The child may appear normal at birth or there may be problems such as poor development of male genitalia.Unexplained hypoglycaemia may suggest pituitary inadequacy.Vision testing and
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