SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (SPG28)

Question 1

What is  SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (SPG28)?

Accepted Answer

rare

autosomal recessive

mutation in the DDHD1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 609340

Question 3

Which enzymes are involved?

Accepted Answer

Phospholipase DDHD1

Disease	SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (SPG28)
OMIM	609340 OMIM = Online Mendelian Inheritance of Men
Orphanet	101008
Protein (UniProt)	Phospholipase DDHD1
Gene locus	14q22.1
ICD
Summary	rare autosomal recessive mutation in the DDHD1 gene
Laboratory findings
Symptoms	defect of walking, running, rising or climbing hyperreflexia hypertonia, spasticity neuropathy onset, adolescent onset, childhood pyramidal signs skoliosis, kyphoskoliosis