clinical features
Last reviewed 01/2018
Cerebral manifestations include:
- severe mental retardation
- severe central hypotonia
- areflexia
- seizures
- feeding difficulties
- craniofacial dysmorphia - high forehead and flat facies
- micropolygyria and pachygyria
Hepatic manifestations comprise:
- hepatomegaly
- cirrhosis and occasionally liver failure
Renal manifestations are:
- multiple small renal cysts
mental retardation (term that has been replaced by intellectual developmental disorder)