MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
Schrander-Stumpel
C
C
Fryns
J
J
Cassiman
J J
JJ
Legius
E
E
Spaepen
A
A
Höweler
C J
CJ
D001037:Aphasia / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D010264:Paraplegia / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014960:X Chromosome