Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies (PLAA)

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies is an autosomal recessive disorder caused by pathogenic variants in the gene PLAA. The onset of this condition occurs at birth or in early infancy. Infants experience rapidly progressive spasticity, seizures, dystonic posturing, and rigidity. Affected individuals have profound global developmental delay with virtually no development of language or motors skills. Other features include progressive microcephaly, optic atrophy, exaggerated responses, hypotonia, and failure to thrive. Brain abnormalities such as white matter lesions and structural anomalies can be seen on neuroimaging. This disorder is typically fatal in early childhood. No clear genotype-phenotype correlation has been established and the prevalence is unknown.

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

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