New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
Gustavson
K H
KH
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Annerén
G
G
Malmgren
H
H
Dahl
N
N
Ljunggren
C G
CG
Bäckman
H
H
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics*; D014960:X Chromosome