[progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia. ( CSP )]
UMLS (CSP) C0035372 Relation/PAR: Genetic Condition
syndrome
Unspecified pervasive developmental disorder
congenital brain disorder
Heredodegenerative Disorders, Nervous System