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).