A slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS.
leukoencephalopathy with vanishing white matter
Li-Fraumeni syndrome +
Loeys-Dietz syndrome +
long QT syndrome 1
long QT syndrome 10 +
long QT syndrome 11
long QT syndrome 12
long QT syndrome 13
long QT syndrome 14
long QT syndrome 15
long QT syndrome 2
long QT syndrome 3
long QT syndrome 4
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
lymphedema-distichiasis syndrome +
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia +
mandibulofacial dysostosis, Guion-Almeida type
maturity-onset diabetes of the young +
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts +
megalencephalic leukoencephalopathy with subcortical cysts 2B