Ontology highlight
ABSTRACT:
SUBMITTER: Stromme P
PROVIDER: S-EPMC1734364 | biostudies-other | 1999 May
REPOSITORIES: biostudies-other
Strømme P P Sundet K K Mørk C C Cassiman J J JJ Fryns J P JP Claes S S
Journal of medical genetics 19990501 5
In order to describe the neurological abnormalities and to identify the gene localisation, we re-evaluated a previously reported family with X linked mental retardation (XLMR). Reliable data were obtained for six of the seven affected males, of whom two had had infantile spasms. Profound MR (IQ<20) was found in one and mild MR (IQ 50-70) in five males. No dysmorphic features, except for macrocephaly in one male, were found. Neurological abnormalities included varying degrees of spinocerebellar i ...[more]