Condition: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE


rs373856119 in DDHD2 gene and SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 23486545 2013 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).