This condition is caused by mutations in the Prolyl 4-hydroxylase, transmembrane (P4HTM) gene. This gene is located on the short arm of chromosome 3 (3p21.3). The inheritance of this condition is autosomal recessive.
HIDEA syndrome
Familial hypertriglyceridemia
AREDYLD syndrome
Diogenes syndrome
GFER Syndrome
Bloom syndrome
Alice in Wonderland syndrome
Toriello–Carey syndrome