clinical features
Last reviewed 01/2018
This condition is characterized by:
- hepatomegaly but no splenomegaly
- doll-like face
- hypoglycaemia on fasting
- hyperglycaemia after a meal
- fits
- low IQ
Other features include failure to thrive, lumbar lordosis, xanthomata (over buttocks and joints), adiposity.
mental retardation (term that has been replaced by intellectual developmental disorder)