A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
autosomal recessive Ehlers-Danlos syndrome, vascular type
MONDO:0002014
hydrolethalus syndrome
MONDO:0006037
chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
MONDO:0007327