Hypomyelinating Leukodystrophy 12 (HLD12) (VPS11)

Hypomyelinating leukodystrophy 12 (HLD12) is an autosomal recessive neurological disorder caused by pathogenic variants in the gene VPS11. HLD12 is most prevalent in the Ashkenazi Jewish population. This disorder has an onset in infancy and is characterized by severe developmental delay, acquired microcephaly, lack of speech, variable seizure disorder, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination. Life expectancy is dependent upon severity of symptoms. No clear genotype-phenotype correlations have been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):