autosomal recessive pattern of inheritance. This means that two parents with one copy of the gene each will not have the disease themselves, but can pass on the gene to their children. Statistically, one in four of these children will inherit both copies of the recessive gene and develop the disease.<unk>  is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia. Strumpellin is involved in endosomal transport and cell death processes. The mutation occurs at a splice site and causes a substantial decrease in the amount of strumpellin produced by the cell. The phenotype is similar to 6pter-p24 deletion syndrome and 6p25 deletion syndrome but has a different etiology. :Screening for the condition prenatally may be done with ultrasound. ::*First-trimester ultrasounds can detected nuchal abnormalities ::*Second-trimester ultrasounds can pick up characteristic major structural abnormalities. :Prenatal diagnosis is possible through genetic testing. ::*Chorionic villus sampling or chorionic villus biopsy (CVS) in the first-trimester. ::*Amniocentesis in the second-trimester. Because<unk>  is an autosomal recessive disorder, parents with one child with the disorder have a 25% chance of having another child with the disorder.
3C syndrome
CAMFAK syndrome
3-M syndrome
TEMPI syndrome
TAN syndrome
WAGR syndrome
RIDDLE syndrome
VEXAS syndrome