Siddiqi syndrome (SIDDIS) is a novel autosomal recessive deafness-dystonia syndrome. It has been reported that mutations in FITM2 cause this syndrome. FITM2 is required for normal fat storage and metabolism due to its involvement in partitioning triglycerides into lipid droplets.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H02797 Siddiqi syndrome
