Macrocephaly, mental retardation, dysmorphism, and spastic paraplegia.
de Ravel
T J L
TJ
Van Driessche
J
J
Fryns
J P
JP
D000328:Adult; D001921:Brain / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D010264:Paraplegia / Q000473:pathology*