Ontology highlight
ABSTRACT:
SUBMITTER: Mitchell SJ
PROVIDER: S-EPMC1377078 | biostudies-other | 1998 May
REPOSITORIES: biostudies-other
American journal of human genetics 19980501 5
Nine affected individuals are described from a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal degeneration. In all cases, the parents were at least first cousins, since there was complex consanguinity within the pedigree. The clinical features differ from previously reported syndromes involving pigmentary retinal degeneration and appear to represent a n ...[more]